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June 2021

Facts About Sickle Cell Disease – What You Should Know

By Nifty Test No Comments

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
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
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.

Risk factors
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.

Common complications
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.

Severe anemia
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.

Patient history
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.

Home care
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.

Why Every Couple Needs Genetic Testing

By Unity Test No Comments

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.

unity test

Are you AS with AS partner and pregnant? You can screen your unborn baby for Sickle Cell Disease

By Unity Test No Comments

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.