Being the lecture delivered at the 2nd Youth Conference of the Prayer Center Church of God on 10th September 2016 by Dr Thomas-Wilson Ikubese.
There are two major medical considerations that intending couples should take note of in their quest for compatibility in a fulfilling matrimony
CONSIDERATION 1: Genotype
Genotype simply refers to hemoglobin gene constituents.
The genotypes in humans are AA, AS, AC, SS
Genes are always in pairs and overall expression depends whether dominant,
recessive or X-linked. So there is no problem when one of the genes is abnormal, e.g. AS, AC. This is called a carrier state (sickle cell trait). Only when the two are abnormal then there is a great problem.
Sickle cell disease (a recessive disorder) is a very serious medical condition with
high prevalence rate in sub Saharan Africa. Intending couples must make sure to know their genotypes and be sure it’s compatible for marriage before going ahead to get married.
So who can you marry and who shouldn’t you marry based on Genotype compatibility?
Someone with the genotype AA can marry across. That is there’s no risk of having a sickler for a child even when he or she marries an SS. But AA marrying an SS can only result in AS children. There’s no hope of having a child with the genotype AA. But there’s no danger either.
Someone with the genotype AS should only marry someone with the genotype AA because if AS marries AS there’s one out of 4 chances (AS, AS, AA and SS) that they will have a child with the sickle cell disease. Same applies when AC is
combined. AC and AS combine will produce AA, AS, AC, SC, the sickle cell
disease will be SC. Remember that it is only when two abnormal marry that
there is a great problem.
Of course there are many cases where two abnormal was combined that is an AS and AS or AC and AC or AC and AS couples and had up to five or six children
without a single sickler among them. But why risk it? What if you’re not so lucky?
Can you forgive yourself when you end up having a child with the sickle cell
disease and put the child through the agony the disease brings when you could have easily avoided it?
The following are the compatible genotypes for marriage :
AA marries an AA . : That’s the best compatible. That way you save your
future children from having to worry about genotype compatibility in future.
AA marries an AS. You’ll end up with kids with AA and AS which is good.
But sometimes if you’re not lucky all the kids will be AS.
The following genes are not compatible for marriage:
AS and AS : These should not marry.
AS and SS: These also shouldn’t think of marrying.
SS and SS : These must not marry since there is absolutely no chance of
escaping having a child with the sickle cell disease.
*Symptons of Sickle Cell Disease
Signs and symptoms of sickle cell anemia often don’t appear until an infant is at least 4 months old and may include:
*Anemia. Sickle cells are fragile. They break apart easily and die, leaving you
without a good supply of red blood cells. Red blood cells usually live for about 120 days before they die and need to be replaced. But sickle cells die after an average of less than 20 days. This results in a lasting shortage of red blood cells (anemia).
Without enough red blood cells in circulation, your body can’t get the oxygen it needs to feel energized. That’s why anemia causes fatigue.
*Episodes of pain. Periodic episodes of pain, called crises, are a major symptom of sickle cell anemia. Pain develops when sickle-shaped red blood cells block blood flow through tiny blood vessels to your chest, abdomen and joints. Pain can also occur in your bones. The pain may vary in intensity and can last for a few hours to a few weeks. Some people experience only a few episodes of pain. Others experience a dozen or more crises a year. If a crisis is severe enough, you may need to be hospitalized.
*Hand-foot syndrome. Swollen hands and feet may be the first signs of sickle cell anemia in babies. The swelling is caused by sickle-shaped red blood cells blocking blood flow out of their hands and feet.
Frequent infections. Sickle cells can damage your spleen, an organ that fights
infection. This may make you more vulnerable to infections. Doctors commonly give infants and children with sickle cell anemia vaccinations and antibiotics to prevent potentially life-threatening infections, such as pneumonia.
*Delayed growth. Red blood cells provide your body with the oxygen and nutrients
you need for growth. A shortage of healthy red blood cells can slow growth in infants and children and delay puberty in teenagers.
*Vision problems. Some people with sickle cell anemia experience vision
problems. Tiny blood vessels that supply your eyes may become plugged with
sickle cells. This can damage the retina — the portion of the eye that processes
Managing Sickle Cell Anaemia
WHAT YOU SHOULD KNOW ABOUT BONE MARROW
BMT for sickle cell is a procedure whereby cells from the bone marrow of a donor (ie someone who is Haemoglobin AA or AS) are transplanted into someone with Haemoglobin SS
WHERE DO THE DONATED CELLS COME FROM FROM?: Bone marrow cells are usually taken from the hip bone of the donor – who must have either Haemoglobin AA or AS. Usually, a brother or sister of the patient is preferred.
BEFORE BONE MARROW TRANSPLANTATION CAN PROCEED, 3 MAJOR REQUIREMENTS MUST BE MET:
Identify the best donor (ie best match for the patient). Blood tests will determine who the best match is.
Next, both the donor and the patient will have pre-transplant evaluations of the
heart, lungs, kidney, etc. Counseling and interviews with a psychologist and a
social worker also are an important part of the process.
BMT must be done under sterile conditions and the recipient will be on admission in hospital for about 10 days before the transplant procedure and for up to 1 month after the procedure.
The actual BMT procedure is in the form of transfusion (just like the usual blood
transfusion); the donated bone marrow is in a blood bag and passed into the
patient’s body through a vein over a few hours.
After the transfusion, the patient is monitored in hospital (on admission) over the period of about 1 month – under sterile conditions because they are vulnerable to infections at this time
The patient continues to be monitored after discharge for several months to be sure the marrow has “taken”.
THE PATIENT IS CURED BECAUSE: They no longer have sickle cell crises and
other symptoms of sickle cell. They begin to live life normally like people who are Hb AA or AS – without frequent visits to the hospital, etc After the BONE
MARROW TRANSPLANTATION procedure, when their genotype is checked by a blood test, they are found to have become Hb AA or AS – depending on the genotype of their donor.
IMPORTANT!: Although the patient is cured – as evidenced by cessation of crises and other symptoms of sickle cell, as well blood test showing a change in their genotype, they need to be aware that they can still pass the Sickle Cell gene (S gene) to their children. This is important.
BONE MARROW TRANSPLANTATION IS NOT RECOMMENDED FOR EVERYONE WITH SICKLE CELL:
BMT is associated with risks and sometimes serious complications. The doctors who carry out the procedure insist that a number of criteria are met. The doctors will often consider the severity of the patient’s sickle cell condition vis a vis the risks of the procedure, before recommending it.
BMT IS EXPENSIVE: Most people travel abroad for the procedure and total cost
of the procedure, air travel, food and board for about 6 months for patient and care giver add up to about a whopping N25m (twenty-five million Naira) per patient!
SICKLE CELL FOUNDATION NIGERIA OFFERS BONE MARROW
For the past 4 years, 45 persons have benefited from the Sickle Cell Foundation Nigeria BMT Project. In collaboration with IME Rome, these 45 persons with sickle cell anaemia received BMT in Rome and are all cured today. The arrangement with IME Rome is for TECHNOLOGY TRANSFER, so the good news is that soon, BMT will be done here locally by the Foundation in collaboration with Lagos University Teaching Hospital (LUTH). Doctors and nurses have already gone for the necessary training in Rome.
Once the Foundation begins to provide bone marrow transplantation locally as stated above, the cost of the procedure will be a lot less and more Nigerians will be able to access it.
The cost can be brought down to N5m per patient.
BMT IN UNIVERSITY OF BENIN TEACHING HOSPITAL (UBTH)
Dr. Bazuaye of UBTH has also performed about 3 BMTs for sickle cell successfully over the past 3 years at the teaching Hospital.
Sickle Cell Foundation Nigeria and LUTH plan to work together with the Benin Team for the benefit of Nigerians with Sickle Cell.
CONSIDERATION 2: Blood Group
The blood groups are designated by the letters O, A, B, AB.
Blood groups have a hereditary basis and depend upon a series of alternative
genes, a fact sometimes utilized in solving the problems of disputed parentage.
Equally important and linked to the blood group is the Rhesus antigen, which is positive in 83% of the British population but about 95% among the black population.
Thus one can be O Rhesus positive (O+ve) or O Rhesus negative (O-ve). When an Rh +ve blood is given to an Rh -ve person, then Rhesus antibodies are stimulated; for instance, immunization of a woman can result from blood transfusion or injection of Rh positive blood. In women, also, immunization due to pregnancy can result from the passage of the Rh +ve antigen from a Rh positive fetus across the placenta into the circulation of a Rh negative woman.
It must be emphasized that when a Rh-ve woman is married to a Rh positive man, the chance for her becoming sensitized to the Rh antigen and thus having children affected with haemolytic (red cell breakdown) disease of the new-born is relatively small. The risk of developing antibodies increases with succeeding pregnancies, thus if a Rh-ve woman marries a Rh +ve man, there is 1 in 143 chance of Rhesus iso-immunization during the first pregnancy, 1 in 14 during the 2nd and 3rd; 1 in 12 during the 4th, and 1 in 8 during the 5th pregnancy.
The overall incidence of haemolytic disease of the newborn due to this problem is about 1 in 200 of all pregnancies. Usually, sensitization due to pregnancy practically never results in haemolytic disease in the first child; on the other hand, sensitization due to previous blood transfusion may cause the first child to be affected. Thus the importance of avoiding the transfusion of Rh +ve blood to a Rh-ve person must be emphasized.
In conclusion, in view of the low risk of Rhesus iso-immunization, Rhesus factor
does not constitute an absolute contraindication why a Rh -ve woman should not marry a Rh +ve man. Even in the few cases where sensitization occurs, the affected child can still be effectively treated. There is a drug that can be used to prevent sensitization if the Rhesus status of the couple is known initially.
There is no risk of Rhesus iso-immunization if both couple are Rhesus +ve, or are Rhesus -ve, or if a Rh -ve man marries a Rh +ve woman.
It is important to prevent genetic diseases by marrying a partner of compatible genotype and determining the Rhesus status of every newly-born child where the man is Rhesus-positive and the woman is Rhesus-negative.
It is better to respect medical advice relating to medical compatibility than go
blindly or stubbornly into marriage and end up in distress as a result of emotional, social and financial burdens .
Thanks for listening.
*Dr Thomas-Wilson Ikubese
*Medical Director, Sckye Hospital Ltd, Akure. Ondo state.