What to know about sickle-cell disease

Hadiza Sani Mohammed, 24, lamented that people suffering from sickle-cell anaemia are being stigmatised and that the public tends to see them as weak. “We are normal human beings and can do what others can do but in a relaxed manner because we don’t like stress. I can do what anybody can do because I […]

Hadiza Sani Mohammed, 24, lamented that people suffering from sickle-cell anaemia are being stigmatised and that the public tends to see them as weak.

“We are normal human beings and can do what others can do but in a relaxed manner because we don’t like stress. I can do what anybody can do because I am also strong, all I need to do is relax and take a lot of water,” said Mohammed, who is a patient herself and a graduate of mass communication

“As a sickle-cell patient, you can live a normal life, become a professional, get married and give birth. But we face rejection particularly when it comes to marriage because most parents will not allow their child to marry a sickle-cell patient,” she  said. 

According to her, the Sickle-cell Centre at Barau Dikko Teaching Hospital is not full blown like that of ABUTH, Shika in Zaria and that the facilities are not enough to enable it admit patients. 

However, while commending the availability of haematologists in the hospital, she urged government to improve the centre and equip it like that of Shika. “At Shika, sickle-cell patients who cannot afford to buy drugs are treated free of charge,” she also said.

She also called on government to fund sickle-cell like it does polio and malaria among other serious health conditions and also pass a bill to stop marriage between carrier parents.

Professor Aliyu A. Babadoko, a consultant haematologist with Ahmadu Bello University Teaching Hospital (ABUTH), Shika, Zaria said SCD describes a group of inherited red blood cell disorders. He also described the disease as an inheritance of two abnormal haemoglobin genes, one from each parent.

He explained that people with SCD have abnormal haemoglobin, called haemoglobin S, or sickle hemoglobin, in their red blood cells. Haemoglobin S is caused by a small defect in the gene that directs the production of the beta globin part of haemoglobin (Hb). 

“In all forms of SCD, at least one of the two abnormal genes causes a person’s body to make haemoglobin S,” he said, adding that SCD is not contagious, as a person cannot contact it, like a cold or infection, from a sufferer.

According to the expert, the most common and severe kind of sickle-cell disease is Sickle-Cell Anaemia (SCA), which occurs when a person has two haemoglobin S genes, that is, SS. However, he further clarified that SCD does not include AS individuals who are sickle-cell trait or carrier.

The expert explained that if one parent has sickle cell anaemia (HbSS) and the other is completely unaffected (HbAA), all their children will have sickle-cell trait but none will have sickle-cell anaemia. What happens in that case is that a parent who has the sickle-cell anaemia (HbSS) can only pass the sickle haemoglobin gene to each of their children.  

How does sickling take place?

Professor Babadoko said that Sickle Hb is not like normal haemoglobin and that upon de-oxygenation, it can form stiff rods within the red cell, changing it into a crescent, or sickle shape. Sickle-shaped cells he said are not flexible and can stick to vessel walls, causing a blockage that slows or stops the flow of blood. 

Symptoms

The body is said to always make new red blood cells to replace the old cells; however, in Sickle-Cell Disease, the body may have trouble keeping up with how fast the cells are being destroyed. The condition, called anaemia, can make a person have less energy.

The expert noted that red cell sickling and poor oxygen delivery can cause organ damage as any organ can be affected including: spleen, brain, eyes, lungs, liver, heart, kidneys, penis, joints, bones, or skin among others. 

However, he mentioned that the most common symptom of anaemia is fatigue (feeling tired or weak), shortness of breath, dizziness, headaches, coldness in the hands and feet, paler than normal skin or mucous membranes and jaundice (a yellowish colour of the skin or the eyes.

Sickle-cell anaemia can be diagnosed via screening tests such as blood film, Hb electrophoresis, Genotype – DNA analysis, neonatal screening and prenatal screening among others. Its management therefore requires multidisciplinary approach involving haematologists, physicians, medical laboratory scientists, radiologists, nurses, genetic counselors, community health officers, social welfare, dietitians and other care givers.

Professor Babadoko stressed the need for development of manpower capacity for early prevention, early detection and management,  adding that new and aggressive treatment for SCD are prolonging life and improving its quality.

“As recently as 1973, the average lifespan for people with SCD was only 14 years but currently, life expectancy for these patients can reach 50 years and above. Also, women with sickle-cell live longer than their male counterparts as the median age at death for males is 53 years while for the females is 58 years,” Prof. Babadoko also said, adding that as children with SCD live longer, older patients are now facing medical problems related to the long-term adverse effects of the disease process.

He said there is a cure for sickle-cell anaemia known as ‘Stem cell transplant’, which he said cannot be effective without the establishment of a bone marrow registry where people without sickle cell gene can donate bone marrows.

“What is required is not the bone but blood from the bone marrow where blood is formed because the stem cells are within that region and it is the stem cells that will repopulate the patient’s red cells because they produce new normal cells,” he explained. 

Another consultant haematologist with the Department of Haematology and Blood Transfusion, ABUTH, Zaria, Dr Waziri A. Dahiru, also called on government to establish bone marrow transplant centres in all the geopolitical zones of the country where patients who require stem cell transplant can be treated. Bone marrow transplant, he said, is a form of treatment for people with sickle-cell anemia that was recently introduced to Nigeria.