Hemoglobinopathies are diseases that affect the formation of the red blood pigment hemoglobin. The diseases are common in Nigeria and Africa in general.
Among the most common hemoglobinopathies, alpha and beta thalassemias are caused by altered hemoglobin molecules, which can lead to multiple organic lesions. Thalassemias are characterised by an abnormal haemoglobin production that can lead to anaemia and destruction of red blood cells. Alpha and beta thalassemia, the two main types of thalassemia, are caused by inadequate production of the α (alpha) and/or ß (beta) globin molecule.
Depending on the severity of the condition, the quality of life of the patients may be severely limited and their life expectancy significantly reduced.
Symptoms of thalassemia vary from mild, to severe and even fatal. In certain ethnic groups, the prevalence can be as high as 30 percent, with up to 90 percent as carriers.
It is hypothesised that alpha and beta thalassemia are more prevalent in malaria exposed regions due to improved disease protection.
They are distinct hematologic disorders caused by a defect in globin chain production. There are many thalassemia variants that result in people being carriers but not necessarily patients.
Thalassemia is highly heterogeneous and presents challenges to clinicians and laboratories alike. With the changing patterns of thalassemia syndromes, there is increased demand for testing.
Alpha-thalassemia is caused by defects on chromosome 16p, where the alpha globin cluster is located, while beta-thalassemia is a defect on chromosome 11.
Thalassaemia is the most common inherited blood condition in the world. It is caused by changes to the genes for haemoglobin – a protein in red blood cells that carries oxygen around the body. Changes affecting haemoglobin result in severe anaemia.
Thalassaemia is usually diagnosed within the first six months of life and can be fatal in early childhood without ongoing treatment.
Alpha-thalassaemia involves genetic changes in two genes (HBA1 and HBA2). Beta-thalassaemia involves changes in one gene (HBB).
Thalassaemia minor refers to people who have genetic changes in one copy of the HBB gene (for beta-thalassaemia) or in one copy of each of the HBA1 and HBA2 genes (for alpha-thalassaemia), but still have second copies of these genes that don’t have genetic changes. These are known as ‘carriers’ of the condition.
People who are carriers have mild or no symptoms, but they carry the genetic changes and can pass them on to their children. Thalassaemia minor can refer to people with either alpha- or beta-thalassaemia.
If you are diagnosed with beta-thalassaemia minor, you have one changed copy of the HBB gene, and one unchanged copy of the gene. Because you have one functioning copy of the gene, your health is not affected by beta-thalassaemia. The only way to detect if someone is a carrier is by a specific blood test for thalassaemia.
Thalassaemia major refers to when you have changes in both copies of the affected gene or genes. This means that you have no fully functioning copies of the genes.
You could be with either alpha- or beta-thalassaemia.
If you are with either alpha- or beta-thalassaemia major, you will have symptoms associated with the condition. Beta-thalassaemia major is more common than alpha-thalassaemia major.
If you and your spouse are carriers of the same type of thalassaemia, any of the following could apply to your children:
- 25 percent risk of developing thalassaemia major because they inherited the thalassaemia gene from both of you
- 25 percent chance of not inheriting the thalassaemia gene at all
- 50 percent chance of inheriting the gene from one parent and becoming a carrier
Symptoms appear in early childhood. They include:
- severe anaemia – red blood cells are produced without enough haemoglobin to carry oxygen
- sleep difficulties
- poor appetite
- failure to grow and thrive
- enlargement of organs – such as the spleen and liver.
There is no cure for thalassaemia major and treatment must continue for life. Ongoing treatment includes regular blood transfusions to boost haemoglobin levels in the blood. These transfusions can lead to a build-up of iron that can cause serious side effects, including diabetes, heart failure and liver disease.
Thalassaemia can be diagnosed through genetic tests and pre-pregnancy. It is recommended that couples at risk should be tested for thalassaemia carrier status, especially before starting a family. Couples may also choose prenatal diagnosis with the option of terminating the pregnancy if the foetus is diagnosed with thalassaemia major.
If thalassaemia runs in your family, a genetic counsellor can explain what genetic testing options are available to you and other family members. You may choose to visit a genetic counsellor if you are planning a family – to find out your risk of passing the condition on to your child, or to arrange for prenatal tests.
Carrier screening allows parents-to-be to find out their chances of having a child with this disease. If you are already pregnant, a prenatal diagnostic test allows you to find out if your fetus is at risk or actually has cystic fibrosis or is a carrier.
Unity Test is the only prenatal screen test currently available that is able to screen cell-free fetal DNA for genetic mutations associated with alpha- and beta- thalassemia using just one tube of blood from the mother as source material.
The test is currently available in Nigeria only at Genomix. The procedure is affordable, simple, convenient, safe for mother and baby and the results are fast produced. It is a non-invasive test, only a tube of blood from the mother’s arm is required.
With the Unity Test, you can have access to safe, accurate and affordable prenatal screening for alpha thalassemia and beta thalassemia. The test is one of the most accurate for carrier screening for adverse health conditions.
Unity Test is based on a patented Quantitative Counting Template (QCT) molecular counting technology, which allows count of the number of molecules with a single base-pair resolution.
Compared to traditional screening methods, Unity Test is faster, more affordable, and less burdensome.
The Unity Test is the only prenatal test worldwide that tests for thalassemia and four other genetic conditions from just one tube of blood from the mother. This test is available in Nigeria exclusively at Genomix.
Carrier screening for alpha thalassemia or beta thalassemia with the Unity Test is beneficial to you and your unborn baby because it is non-invasive, safe, accurate, convenient and fast.
It is possible to find out if a fetus has either alpha thalassemia or beta thalassemia or is a carrier through the Unity prenatal screening. This testing has a sensitivity of over 98 percent and can be done as early as 10 weeks of pregnancy.
Edwards’ syndrome, also known as trisomy 18, is a rare but serious condition that affects how long a baby may survive. There’s no cure for Edwards’ syndrome and sadly, most babies with the disease will die before or shortly after being born and just a small number of babies born alive with Edwards’ syndrome will live past their 1st birthday.
The disease is linked to chromosomal abnormalities. Normally, each cell in the body contains 23 pairs of chromosomes, which carry the genes you inherit from your parents. A baby with Edwards’ syndrome has three copies of chromosome number 18 instead of two and this affects how the baby grows and develops. Having three copies of chromosome 18 usually happens by chance, because of a change in the sperm or egg before a baby is conceived.
Essentially, your chance of having a baby with Edwards’ syndrome increases as you get older, but anyone can have such a baby. The condition does not usually run in families and is not caused by anything the parents have or have not done.
The symptoms of Edwards’ syndrome and how seriously a baby is affected, usually depend on whether they have full, mosaic, or partial Edwards’ syndrome.
Most babies with Edwards’ syndrome have an extra chromosome 18 present in all cells. This is called full Edwards’ syndrome. The effects of full Edward’s syndrome are often more severe and most babies with this form of the disease will die before they are born.
A small number of babies with Edwards’ syndrome (about 1 in 20) have an extra chromosome 18 in just some cells and this type is called mosaic Edwards’ syndrome or mosaic trisomy 18.
This can lead to milder effects of the condition, depending on the number and type of cells with the extra chromosome. Most babies with this type of Edward’s syndrome who are born alive will live for at least a year, and may also live to adulthood.
A very small number of babies with Edwards’ syndrome (about 1 in 100) have only a section of the extra chromosome 18 in their cells, rather than a whole extra chromosome 18. This is called partial Edwards’ syndrome or partial trisomy 18. How partial Edwards’ syndrome affects a baby depends on which part of chromosome 18 is present in their cells. All babies born with Edwards’ syndrome will have some level of learning disability.
Edwards’ syndrome is associated with certain physical features and health problems. They will usually have a low birthweight and may also have a wide range of physical symptoms and may also have heart, respiratory, kidney or gastrointestinal conditions.
Screening for Edwards’ syndrome is often advised for new and old couples alike. If you’re pregnant, you can be offered screening for Edwards’ syndrome between 10 and 14 weeks of pregnancy. This looks at the chance of your baby having the condition. There are different screening tests but the only non-invasive test that can detect this condition is the NIFTY (Non-Invasive Fetal TrisomY) prenatal test.
Unlike invasive tests such as the chorionic villus sampling (CVS) which collects a sample from the placenta and amniocentesis, which collects a sample of the amniotic fluid from around your baby, the NIFTY Test poses no risk to the mother or the unborn baby because it is 100 percent non-invasive.
The NIFTY Test is a safe, simple, non-invasive prenatal test (NIPT), which offers screening for certain genetic conditions such as Edwards’ syndrome from as early as week 10 of pregnancy.
Using the latest genetic sequencing technology, NIFTY has over
99 percent accuracy for the three most common trisomy conditions present
at birth – Edwards’ Syndrome, Down Syndrome and Patau Syndrome. The test is currently available in Nigeria only at Genomix.
The procedure is affordable, simple, convenient, safe for mother and baby and the results are fast produced. It utilizes cell-free DNA fragments which are short fragments of DNA, that are circulating in the blood.
During pregnancy, the fragments originating from both the mother and fetus are present in the maternal blood circulation.
The NIFTY test requires taking a small maternal blood sample and analysing to screen for chromosomal abnormalities in the fetus. The technology behind the NIFTY test enables highly accurate results with detection rates.
If the test result is positive for Edwards’ syndrome before birth, you’ll have opportunity to be offered support and information so that you can make informed decisions.
Prenatal testing or screening can provide valuable information about your baby’s health and can identify whether your baby is more or less likely to have certain birth defects, many of which are genetic disorders.
These tests can be invasive or non-invasive in nature and they are usually offered during the first or second trimester of pregnancy. They include blood tests, a specific type of ultrasound and prenatal cell-free DNA screening.
What is Non-Invasive Prenatal Testing?
Non-invasive prenatal testing (NIPT), or sometimes called non-invasive prenatal screening (NIPS), is a method of determining the risk that the fetus will be born with certain genetic abnormalities. NIPT is a blood screening that the doctor may offer any time after 10 weeks gestation during your pregnancy.
The testing analyzes small fragments of DNA that are circulating in a pregnant woman’s blood. Unlike most DNA, which is found inside a cell’s nucleus, these fragments are free-floating and not within cells, and so are called cell-free DNA.
During pregnancy, the mother’s bloodstream contains a mix of cell-free DNA that comes from her cells and cells from the placenta. The placenta is tissue in the uterus that links the fetus and the mother’s blood supply. These cells are shed into the mother’s bloodstream throughout pregnancy.
The DNA in placental cells is usually identical to the DNA of the fetus. Analyzing cell-free DNA from the placenta provides an opportunity for early detection of certain genetic abnormalities without harming the fetus.
Why is NIPT considered non-invasive?
NIPT is considered non-invasive because it requires drawing blood only from a pregnant woman and does not pose any risk to the fetus. Essentially, NIPT is a screening test, which means that it will not give a definitive answer about whether or not a fetus has a genetic condition.
The test can only estimate whether the risk of having certain conditions is increased or decreased. In some cases, NIPT results indicate an increased risk for a genetic abnormality when the fetus is actually unaffected (false positive), or the results indicate a decreased risk for a genetic abnormality when the fetus is actually affected (false negative).
Because NIPT analyzes both fetal and maternal cell-free DNA, the test may detect a genetic condition in the mother.
What disorders can NIPT screen for?
NIPT is specific and doesn’t screen for every genetic condition. Most often it is used to look for chromosomal disorders that are caused by the presence of an extra or missing copy (aneuploidy) of a chromosome.
Specifically, the NIPT test primarily looks for:
- Down syndrome – trisomy 21, caused by an extra chromosome 21
- Edwards’ syndrome – trisomy 18, caused by an extra chromosome 18
- Patau syndrome – trisomy 13,- caused by an extra chromosome 13
- Klinefelter syndrome – caused by an additional X chromosome
- Turner syndrome – caused by a missing or partially missing X chromosome
These are all genetic conditions that can cause developmental delays and physical or mental defects. The accuracy of the test varies by disorder.
NIPT may include screening for additional chromosomal disorders that are caused by missing (deleted) or copied (duplicated) sections of a chromosome, and now it is beginning to be used to test for genetic disorders that are caused by changes (variants) in single genes. It is expected that NIPT will become available for many more genetic conditions.
How is NIPT test carried out?
There must be enough fetal cell-free DNA in the mother’s bloodstream to be able to identify fetal chromosome abnormalities. The proportion of cell-free DNA in maternal blood that comes from the placenta is known as the fetal fraction.
Generally, the fetal fraction must be above 4 percent, which typically occurs around the tenth week of pregnancy. Low fetal fractions can lead to an inability to perform the test or a false negative result.
To determine chromosomal aneuploidy, the most common method is to count all cell-free DNA fragments (both fetal and maternal). If the percentage of cell-free DNA fragments from each chromosome is as expected, then the fetus has a decreased risk of having a chromosomal condition (negative test result).
If the percentage of cell-free DNA fragments from a particular chromosome is more than expected, then the fetus has an increased likelihood of having a trisomy condition (positive test result). A positive screening result indicates that further testing (called diagnostic testing, because it is used to diagnose a disease) should be performed to confirm the result.
What are the benefits of NIPT?
- Non-Invasive Prenatal Testing (NIPT) can offer important clues about your developing baby’s health.
- The test may help you make informed healthcare decisions for your child, both while the baby is in the uterus and after birth
- Can tell you if you are at higher risk of having a baby with Down syndrome, Edwards’ syndrome, Patau syndrome, Klinefelter syndrome and Turner syndrome
- More than 99 percent accurate. False positives or false negatives rarely occur
- Fast (results within 10 working days)
- Affordable (inexpensive and only a tube of maternal blood is required)
- Safe because it is non-invasive, so poses no miscarriage risk or any other risk to the mother or the baby
Who should have Non-Invasive Prenatal Testing?
NIPT is a blood screening your doctor may offer any time after 10 weeks gestation during your pregnancy. Most often, your doctor will recommend the testing if you are at higher risk of carrying a child with a chromosomal abnormality.
You are more at risk if you are 35 or older, you have a prior pregnancy with a chromosomal condition or you have abnormal test results from other tests or screening. But you may also opt for the testing if you don’t have risk factors.
What can the NIPT results tell you?
We have explained above that NIPT works by analyzing cell-free DNA which is made up of maternal, fetal and placental DNA in your blood.
The testing also looks at the number of your baby’s sex chromosomes, which can tell you whether you’re having a boy or a girl. If it finds extra or missing sex chromosomes, that also may signal a genetic condition.
While the test is a safe way to screen for the three chromosomal conditions, it can’t tell you for sure whether your child will have one of them. It’s a non-diagnostic test.
If results indicate an increased risk for a genetic disorder, your doctor may encourage you to meet with a genetic counselor who can help you better understand your results and will discuss options for follow-up, including diagnostic tests and additional imaging.
So in a nutshell, NIPT can tell you:
- Risk of your baby for a genetic disorder
- Whether you need to go for a diagnostic test or see a genetic counselor
- Sex (gender) of your baby
Is NIPT available in Nigeria? (NIFTY and UNITY tests)
The NIPT test is carried out by Genomix, Nigeria’s leading provider of innovative healthcare and lifestyle solutions based on preventive genetic testing.
Genomix is based in Lagos. It enables pregnant women to have access to safe, accurate and affordable prenatal screening for the listed genetic conditions. It routinely carries out the NIFTY test which is its own patented NIPT test and conveniently screens for the above-listed genetic conditions caused by extra or missing genetic information in the baby’s DNA.
Genomix also carries out the UNITY test which is its patented highly accurate NIPT test that screens for cystic fibrosis, spinal muscular atrophy, sickle cell disease, alpha thalassemia, and beta-thalassemia.
The UNITY NIPT is the only test that screens mother and baby for the five commonly inherited conditions from a single tube of blood.
Sickle cell disease is an inherited condition in which the red blood cells in your body are shaped like a sickle (like the letter C). Red blood cells carry oxygen to the rest of your body. In a healthy person, red blood cells are round and flexible. They flow easily in the blood.
If you have sickle cell disease it means that your red blood cells are stiff and can block blood flow. This can cause pain, infections and, sometimes, organ damage and strokes.
Sickle cell disease may lead to anemia which is a situation that happens when you do not have enough healthy red blood cells to carry oxygen to the rest of your body.
Sickle cell disease is genetic; this means it is passed from parent to child through genes. A gene is a part of your body’s cells that stores instructions for the way your body grows and works. Genes come in pairs and you get one of each pair from each parent.
To have sickle cell disease, a baby needs to inherit a gene change for sickle cell from both parents (SS) . If the baby inherits the gene change from just one parent, then the baby will have the sickle cell trait (AS) .
This means that although the baby has the gene change for sickle cell disease, the baby doesn’t actually have the disease. When this happens, such a baby is a carrier. A carrier has the gene change but doesn’t have the condition.
Sickle cell trait cannot become sickle cell disease and rarely do people with sickle cell trait show signs of sickle cell disease. Bur as a result of the possibility of passing sickle cell disease or sickle cell trait to your children, prenatal testing is essential. If you and your partner both have sickle cell disease (SS), your baby will also have the disease. However, if you and your partner both have sickle cell trait (AS), one of the following is possible:
- there’s a 3-in-4 chance (75 percent) that your baby won’t have sickle cell disease
- 1-in-2 chance (50 percent) that your baby will have sickle cell trait
- 1-in-4 chance (25 percent) that your baby will have sickle cell disease
- 1-in-4 chance (25 percent) that your baby won’t have sickle cell disease or sickle cell trait
The Unity test results are interpreted as Low-Risk or High Risk, where the result says low risk and the chances are further stated as maybe 1 in 5000 for instance, this means the baby has a 99% chance of not being SS.
However when the result says High-Risk, this means it is also 99% certain that the baby will be SS, In cases of High-Risk it will also come with a percentage like 1 in 3 etc, at this instance it means the baby has the chance of being SS.
A genetic counselor is trained to help you understand how genes, birth defects and other medical conditions run in families, and how they can affect your health and your baby’s health. It is advisable that you consult a genetic counselor.
It is not difficult to find out if you have sickle cell disease or sickle cell trait. If sickle cell disease or sickle cell trait runs in either of your families, the family health history is taken.
This is a record of any health conditions and treatments that you, your partner and everyone in both of your families have had.
Sickle cell disease is common in Nigeria and you can find out if your baby has either the disease or the sickle cell trait during pregnancy.
If you or your partner has either the sickle cell disease or the sickle cell trait, you can have a prenatal test to find out if your baby has inherited either disease.
If you or your partner has sickle cell disease (SS) or the sickle cell trait (AS) you can have a prenatal test to find out if your baby has either the disease or the trait. You can find out safely, quickly and accurately with the Unity Prenatal Test.
If you are pregnant and you and your spouse have AS genotype, you can go for the Unity Test that can enable you to find out if your unborn baby has inherited the sickle cell gene from both of you.
The Unity Test is carried out in Nigeria by Genomix. The test is beneficial to you and your unborn baby because it is a non-invasive blood test,
From just one tube of blood sample taken from you the mother, your status can be determined. If you are a carrier of the sickle cell gene (AS) the same blood sample will then be tested to determine the status of your unborn baby.
The Unity Test is the only test that screens mother and baby for sickle cell disease and four other commonly inherited conditions from a single tube of blood and it can help you to make decisions about a pregnancy depending on the result.
The procedure is affordable, simple, convenient, safe for mother and baby and the results are fast produced. It is a non-invasive test, only a tube of blood from the mother’s arm is required.
With the Unity Test, you can have access to safe, accurate and affordable prenatal screening for sickle cell disease. The test is 99 percent accurate for carrier screening for sickle cell disease.
Cystic fibrosis is one of the most common life-shortening diseases. It is based on a genetic modification of a gene known as the CFTR gene. In Nigeria, a significant number of babies are born with the disease, but it is preventable.
The symptoms of cystic fibrosis can vary in type and severity. Many people with the disease produce thick, sticky mucus in their bodies. This mucus builds up and clogs the lungs. This makes it hard to breathe and can lead to infection. Cystic fibrosis also can make it hard for the body to break down and absorb food.
The mild form of the disease is quite common but it becomes serious and affects a person’s health. Treatments are available, but the disease gets worse the longer a person has it. There is no permanent cure.
Essentially cystic fibrosis is a genetic disorder caused by the faulty gene that is passed from parent to child. Carrier screening allows parents-to-be to find out their chances of having a child with this disease. If you are already pregnant, a prenatal diagnostic test allows you to find out if your fetus is at risk or actually has cystic fibrosis or is a carrier.
Unity Test is the only prenatal screen test currently available that is able to screen cell-free fetal DNA for genetic mutations associated with cystic fibrosis using just one tube of blood from the mother as source material.
The test is currently available in Nigeria at Genomix.
The procedure is affordable, simple, convenient, safe for mother and baby and the results are fast produced. It is a non-invasive test, only a tube of blood from the mother’s arm is required.
With the Unity Test, you can have access to safe, accurate and affordable prenatal screening for cystic fibrosis. The test is 99 percent accurate for carrier screening for
Unity Test is based on a patented Quantitative Counting Template (QCT) molecular counting technology, which allows count of the number of molecules with a single base-pair resolution.
With Unity, physicians can screen for most common genetic disorders directly in the baby from maternal blood alone. Compared to traditional screening methods, Unity Test is faster, more affordable, and less burdensome.
The Unity Test is the only prenatal test worldwide that tests for cystic fibrosis, spinal muscle atrophy, sickle cell disease and thalassemia. This test is available in Nigeria exclusively at Genomix.
The test is beneficial to you and your unborn baby because it is a non-invasive blood test. From just one tube of blood sample taken from you the mother, your status can be determined.
If someone is a cystic fibrosis carrier, it means they inherited one gene from the mother and one from the father. If a person has only one copy of a gene for cystic fibrosis, he or she is a carrier.
Carriers often do not know that they have a gene for the disease. They usually do not have symptoms or may have only mild symptoms.
There are options for carrier screening which can be done before pregnancy or during pregnancy. If you have carrier screening before you get pregnant and both you and your partner are carriers, you have more options. If you have carrier screening while you are pregnant, you have fewer options.
Carrier screening for cystic fibrosis is offered to all women who are thinking about getting pregnant or who are already pregnant in Nigeria by Genomix, a Lagos-based facility. It is advisable to have this screening.
The mother is usually tested first. If results show that you are a carrier, your partner is tested. If your partner has a family history of cystic fibrosis, he may be tested first.
If you are already pregnant, you and your partner can be tested at the same time.
If both of you are carriers, there are three possible outcomes:
- There is a 1-in-2 (50 percent) chance the baby will be a carrier, like you and your partner. Being a carrier usually will not affect the health of the baby, but he or she could have a child with cystic fibrosis in the future
- There is a 1-in-4 (25 percent) chance the baby will have the disease
- There is a 1-in-4 (25 percent) chance that the baby will not have cystic fibrosis and will not pass on the disease to future children.
It is possible to find out if a fetus has cystic fibrosis or is a carrier through the Unity prenatal screening. This testing has a sensitivity of over 99 percent and can be done as early as 10 weeks of pregnancy.
If tests show that both of you are carriers, it means that in each pregnancy the fetus will have a 1-in-4 chance of having cystic fibrosis. If you want to know whether your fetus has the disease, you will need to undergo the Unity test.
Sickle cell disease or sickle cell anemia is the most common genetic blood disorder. It is a genetic disease of red blood cells. It occurs when a child receives a sickle cell trait from each parent and affects millions of people worldwide, particularly blacks.
Sickle cell disease causes red blood cells to “sickle” or become banana-shaped when they are stressed and this can make it difficult for them to flow through blood vessels.
Normally, red blood cells are shaped like discs, which gives them the flexibility to travel through even the smallest blood vessels. However, with this disease, the red blood cells have an abnormal crescent shape resembling a sickle.
This makes them sticky and rigid and prone to getting trapped in small vessels, which blocks blood from reaching different parts of the body. This can cause pain and tissue damage.
Symptoms of sickle cell anemia usually show up at a young age from 4 – 6 months old. These include excessive fatigue or irritability, jaundice, skin, Swelling, and pain in hands and feet, chest, back, arms, or legs, etc.
Delayed growth often occurs in people with sickle cell disease and sexual maturation may also be delayed because the sickle cell red blood cells can’t supply enough oxygen and nutrients.
Types of sickle cell disease
Hemoglobin is the protein in red blood cells that carries oxygen. It normally has two alpha chains and two beta chains. The four main types of sickle cell disease are caused by different mutations in these genes.
Sickle cell trait
People who only inherit a mutated gene (hemoglobin S) from one parent are said to have sickle cell trait. They may have no symptoms or reduced symptoms. Two copies of the sickle cell are required for you to have the disease. If you have only one copy of the gene, you are said to have the sickle cell trait.
Hemoglobin SS disease is the most common type of sickle cell disease. It occurs when you inherit copies of the hemoglobin S gene from both parents and form hemoglobin known as Hb SS. As the most severe form of SCD, individuals with this form experience the worst symptoms at a higher rate.
Hemoglobin SC disease is the second most common type of sickle cell disease. It occurs when you inherit the Hb C gene from one parent and the Hb S gene from the other. Symptoms are similar to individuals with Hb SS, however, the anemia is less severe.
Children are only at risk for sickle cell disease if both parents carry the sickle cell trait. A blood test called a hemoglobin electrophoresis can also determine which type you might carry.
Sickle cell anemia can cause severe complications, which appear when the sickle cells block vessels in different areas of the body. The painful or damaging blockages are called sickle cell crises. They can be caused by a variety of circumstances, including illness, changes in temperature, stress, poor hydration, and altitude.
Some neurological complications such as seizures, strokes, or even coma can result from blockages in the vessels supplying the affected organ. Since the disease interferes with blood oxygen supply, it can also cause heart problems which can lead to heart attacks, heart failure, and abnormal heart rhythms.
Among other complications are some forms of organ damage such as to the lungs that can result in more frequent sickle cell crises.
Anemia is a shortage of red blood cells. The sickle cells are easily broken (called chronic hemolysis). The red blood cells generally live for about 120 days but sickle cells live for no longer than 10 to 20 days.
There are many different types of sickle cell disease, but the Hemoglobin SS type is the most common and is also called sickle cell anemia. It occurs when a person inherits one Hemoglobin S sickle trait from each parent making two overall.
The best way is by screening all newborns For sickle cell disease. Pre-Birth testing also identifies the sickle cell gene in the amniotic fluid. There is also the new noninvasive screening for Sickle cell in pregnancy where the mother’s blood is required to screen for the presence of Sickle cell in the baby being carried by the AS mother.
This blood screening for Sickle Cell is now available in Nigeria.
The condition often first appears as acute pain in the hands and feet. Patients may also have severe pain in the bones, anemia, painful enlargement of the spleen, growth problems, respiratory infections, ulcers of the legs and heart problems among others.
Some people with sickle cell disease need blood transfusions and red blood cells can be taken from a blood donor without sickle cell disease or sickle cell trait to treat a patient with sickle cell disease. The only proven cure for sickle cell disease is a bone marrow transplant.
A number of different treatments are available. For instance, rehydration with intravenous fluids helps red blood cells return to a normal state. Also, treatment of underlying or associated infections is an important part of managing the crisis that could result from the stress of an infection. Blood transfusions improve transport of oxygen and nutrients as needed. Packed red cells are removed from donated blood and given to patients.
Supplemental oxygen is given through a mask, it is beneficial because it makes breathing easier and improves oxygen levels in the blood.
Pain medication such as over-the-counter drugs or strong prescription help to relieve the pain during a sickle crisis while other drugs help to increase production of fetal hemoglobin. Immunizations help prevent infections because the patients tend to have lower immunity.
However bone marrow transplant is used to treat sickle cell anemia and it is particularly effective in children younger than 16 years of age with severe complications and a matching donor.
To help sickle cell symptoms, things like using heating pads for pain relief, folic acid supplements, and fruits, vegetables, and whole-wheat grains can help the body make more red blood cells.
Tips such as drinking more water to reduce the chances of sickle cell crises, regular exercise and reduction of stress to reduce crises are all desirable.
The long-term outlook for sickle cell disease varies. Some patients have frequent and painful sickle cell crises. Others only rarely have attacks.
When Chika was pregnant with her first child in 2019, she became worried after an ultrasound scan at 12 weeks and another screen test at 16 weeks revealed what doctors considered a “positive screen” for possible spinal muscle atrophy – a muscle wasting disease in infants.
She had another ultrasound and genetic counselling at 17 weeks, and was later referred for an amniocentesis. But just before she had the test, a colleague told her about the Unity Test which she (the friend) had benefitted from.
After consulting with a genetic counsellor, Chika opted for the UNITY Test and when the result was released it was negative for spinal muscle atrophy. The UNITY Test is a – a non-invasive prenatal test – which tests the DNA of tiny particles of the placenta circulating in the mother’s blood. The test screens the mother and the baby for commonly inherited conditions from a single tube of blood.
The Test offers many benefits, especially for mothers considered high-risk – from better care and treatment for their babies and themselves to peace of mind.
Chika was initially alarmed by the positive screen, but was relieved after opting for the Unity Test which turned out negative for spinal muscle atrophy. But had the test turned out positive, Chika would have been well prepared ahead for the care and special needs the child would have required, rather than feeling completely caught off-guard at the birth of the child.
Nike was 35 when she got married and as soon as she became pregnant a couple of months later, she was classified in the higher-risk category. Her doctor advised that she should undergo 1st and 2nd trimester screening tests, including blood tests, ultrasounds and genetic counselling. Nike had a family history of cystic fibrosis but the main reason for undergoing screening was peace of mind. The results of the tests weren’t going to change anything about the pregnancy, apart from helping to prepare her for the outcome.
She paid for the UNITY test that would indicate whether her baby was going to have the disease or not. She also agreed to be screened for some other rare conditions at the same time.
A few days after she signed up, Nike had the Test. The testers took a tube of blood from her arm and although she didn’t get to know the gender of her baby yet, the fact that everything was at the lowest risk possible more than made up for that.
It was easy and a great peace of mind and Nike and her spouse were so glad that her doctor had recommended a procedure so simple and safe. For her, the peace of mind is invaluable. If there had been negative results it would have been better to deal with the implications sooner rather than later.
Like Chika and Nike, Remi was overjoyed when she became pregnant about a year ago. She was 29 and had had established that her genotype was AS, meaning she had the sickle cell gene. This was significant and Remi was particularly worried because Dayo, her 32-year-old husband also had AS genotype. The couple had been married close to two years before Remi conceived and even though both of them were overjoyed that their first child was on the way, there was palpable anxiety that the baby might be born with the sickle cell gene (SS genotype).
Remi and Dayo did not want to have a baby with sickle cell disease, but they had accepted that even if they ended up with a baby with the disease, knowing about it ahead would enable them to prepare.
It was a good thing that Remi wanted to be prepared ahead, but she was paranoid about invasive diagnostic tests such as aminocentesis. One of her cousins that went through the procedure sometime in the past suffered a miscarriage. Remi was conscious of this and immediately dismissed any thought of going through with the test.
Amniocentesis is carried out during pregnancy to assess whether a baby has an abnormality or serious health condition. The test can detect various abnormalities and genetic disorders. During the test, a small part of the amniotic fluid is removed from the uterus using a long, thin needle. Amniotic fluid is the fluid that surrounds and protects a baby during pregnancy and it contains fetal cells and various proteins.
Remi was not looking forward to undergoing aminocentesis, she went through counselling and learned that there was a simple non-invasive test -the UNITY Test – for mother and for the baby that provided results within few weeks. She was told that all that is required for the test is one tube of blood from her arm.
The couple also learned that the UNITY Test is fast, cheap and safe. A sample is not required from the father to assess the fetal risk assessment method which is non-invasive.
The test is in two steps. First the carrier status of the mother is ascertained, if there is established risk, the status of the fetus is then determined.
The couple was fascinated and still considered the idea that they wanted to know if there was a chance that the baby had sickle cell disease and considered paying privately for the non-invasive test.
However, Remi was not keen. She was still overwhelmed by her cousin’s experience and even though she would not do an amniocentesis, she was terrified to try the non-invasive UNITY Test.
Months later, Remi and Dayo’s baby was born healthy and free of sickle cell disease but it would have been a good thing if she had been able to know in advance what to expect so that she would have been prepared. It was really great she had a healthy baby, and even if the result had been otherwise, it would have been worth it all the same.
Courtesy of the UNITY Test, Remi would have acquired access to information that would verify her baby’s risk factors before birth and afterwards. The information would help to guarantee the child’s health and her own peace of mind as well as her husband’s.
It gives peace of mind of knowing what to expect when a baby is born. Knowing what to expect would have taken a lot of the stress off of the pregnant woman.
Sickle cell disease is a health condition in which the red blood cells that carry oxygen are abnormally shaped. Instead of being like round discs normally, the red blood cells in people with sickle cell disease are shaped like sickles or crescent moons.
The problem with these sickle-shaped cells is that they get stuck together and often block the small blood vessels in the body. This prevents blood from flowing as it should and can cause pain and even organ damage in severe cases.
Sickle cell disease is a genetic disease. What this means is that people who have the disease inherited it from their parents. A person that has sickle cell disease has inherited the abnormal hemoglobin genes (sickle cell genes) from each of their parents. Hemoglobin is the protein inside the red blood cells that carry oxygen. It is the presence of abnormal hemoglobin that makes the red blood cell to be sickle shaped.
When a baby inherits an abnormal hemoglobin or sickle cell gene from both the father and the mother, that baby will be born with sickle cell disease (SS genotype). However, if a baby inherits an abnormal hemoglobin gene from one parent and inherits a normal hemoglobin gene from the other parent, the baby will be born with the sickle cell trait and will have AS genotype and won’t have symptoms of illness.
If you are pregnant and you and your spouse have AS genotype, you can go for a test called the Unity Test that can enable you to find out if your unborn baby has inherited the sickle cell gene from both of you.
The Unity Test is beneficial to you and your unborn baby because it is a non-invasive blood test unlike Amniocentesis which is an invasive test that requires a needle to be inserted through the uterus to collect the amniotic fluid to check for birth defects and genetic conditions. Another invasive test is called the Chorionic Villus Sampling (CVS) which checks tissues taken from the placenta.
If you opt to carry out the Unity Test on your unborn baby for sickle cell disorder prior to birth, there are a number of advantages. The test can be used to confirm or rule out whether your baby has inherited the disease.
This type of testing is offered during pregnancy if there is an increased risk that the baby will have a genetic or chromosomal disorder and help you make decisions about a pregnancy.
For genetic testing before birth, a blood test can screen pregnant women for some disorders. Unity Test is the only test that screens mother and baby for five commonly inherited conditions from a single tube of blood and one of these diseases is sickle cell disease.
The procedure is simple and the results are ready in three weeks. All that you need to find out if your baby is at risk of sickle cell disease is this simple test. All that it requires is one tube of blood from your arm, so it’s safe for you and safe for your unborn baby.
Unlike all other carrier screening, Unity Test is faster, cheaper and safer. It is also convenient because the DNA sample of the father is not required to assess the fetal risk assessment.
The Unity Test enables every couple to have access to safe, accurate and affordable prenatal screening for sickle cell disease. The test consists of two steps both of which are performed from the same blood sample taken from the mother.
In the first step, your own status as the mother is ascertained. If your status has been confirmed and you are a carrier of the sickle cell gene (AS), the blood sample will then be tested to determine the status of your unborn baby.
The test quality parameters are excellent with accuracy ranging up to 99 percent, which surpasses the gold-standard for carrier screening for sickle cell disease. The Unity test can change your situation and offer you great benefits.