Should we go ahead and marry?

Dear Doctor, As part of our pre-marriage counselling, it turned out that she is sickling positive, with SS as her electrophoresis result, though she is 31 years of age, has a six-year-old son and has always remained slim.

She never showed any symptoms of sickle cell disease ever since I knew her, even till now. I am sickling negative, with AC as my electrophoresis result. I'm also aware of the consequences we will face should we go ahead to marry, especially with respect to her condition and our children, should we decide to give birth.

But she is of the view that we should believe and trust God as Christians and go ahead to marry and that nothing will happen. All I want now is a professional and independent person to advise us on the pros and cons if we go ahead to marry.

AG and worried man, Obuasi

 Dear AG, I have a lot of emails from people in your position, asking whether to marry or not to marry, and it's always a tough one so far as the heart is involved. In your case, faith is also exacting its pound of flesh so I will stick to the scientific evidence and leave the decision for you to make.

From your mail, your fiancée is a sickle cell disease patient with two abnormal haemoglobin combinations, both of the S type. This means she has sickle cell anaemia (SCA) because both abnormal haemoglobins are S. People with an SS combination tend to have a severe form of the disease compared to people with SC or SF.

It may be recalled that the underlying abnormality in sickle cell is that the red blood cells (RBCs) are abnormally shaped. This abnormality predisposes people with sickle cell disease to serious infections, chronic anaemia and damage to body organs.

Each person can have different forms of complications from the disorder. Some remain relatively stable while others are frequently hospitalised.

I may not be able to explain fully why she has never had any problems. However, with the SS combination, there may be other internal factors that protect her from manifesting severe symptoms.

Also, she might have been very compliant with her routine medications and I'm not even sure if she is on hydroxyurea to help keep her stable. Whatever it is, she seems to have kept herself well.

The crises in sickle cell tend to be brought about by stressors. This can be an infection, vigorous exercise, extreme cold, etc. Maybe she knows her stressors and has avoided them very well.

One important stressor in your situation is the possibility of pregnancy should you both decide to have children. I'm not sure what the experience was with the six-year-old child but every pregnancy can be very stressful and will need specialised care throughout.

Your combination of AC makes you a carrier or trait of the disease and marrying somebody with the SS increases the odds of having a child with SC combination to 50 per cent in each pregnancy.

The possible outcome of each pregnancy in your case is that either your child is AS or SC, with each pregnancy. This means that any child delivered after your marriage would either be a carrier or trait or with sickle cell disease with the SC genotype.

Marriage, beyond its blissful nature, is also stressful. Due to uncertainties of life, certain unforeseen circumstances may crop up that may challenge the union. From your mail, there can be two outcomes, either her resilient nature may continue to cushion her throughout the stress, with no symptoms, or she may tip to having crises during stressful episodes.

It would be difficult to predict which way it will go and that's something to consider. Even better maybe that the children from your union will have SC as the worst combination to pick. People with SC tend to manifest a milder form of the disease in general, even though some may have severe manifestations. Again, it would be extremely difficult to predict which direction it will go in your case.

Symptoms of sickle cell disease can vary and range from mild to severe. Most people with sickle cell disease have anaemia and may develop one or more of the following conditions and symptoms as part of the disorder:

Acute chest syndrome - Inflammation or trapped red blood cells in the lungs. Aplastic crisis - Bone marrow temporarily slows its production of RBCs due to infection.
Hand-foot syndrome (dactylitis) - Painful swelling of the hands and feet.

Infection - People with sickle cell disease are at an increased risk for certain bacterial infections. Painful crises - Can occur in any part of the body and may be caused by cold or dehydration. The pain may be so severe that hospitalisation would be required.

Splenic sequestration crises - The spleen becomes enlarged by trapping the abnormal RBCs. This leads to fewer cells in the general circulation and worsens the anaemia with sometimes fatal consequences.

Stroke - Poor blood blow can occur in the brain when sickle cells block small blood vessels. This may lead to stroke. Other possible complications can include leg ulcers, bone and joint damage, gallstones, kidney damage, painful prolonged erections in males, eye damage and delayed growth.

Besides a bone marrow transplant, there is no known cure for sickle cell disease. Transplants can become a complicated procedure and are not advised for everyone. To qualify, the person would need bone marrow from a "matched" donor with a low risk of being rejected.

There are significant risks towards the procedure, along with a high chance of rejection of the transplanted marrow. After a transplant, the risk of transmission to their children persists.

On a positive note though, even without a cure, people with sickle cell disease can lead very normal lives. Your fiancée typifies that. Certain types of medication can be taken to help manage the pain, and immunisations can prevent infections.

With the pneumococcal and meningococcal vaccines introduced into our expanded programme on immunisation, daily vitamin supplements, such as Folic acid, and the availability of hydroxyurea, which helps to stabilise people with sickle cell disease, the horizon remains bright.

I must add that it can be emotionally challenging sometimes caring for a child with sickle cell disease, especially with the frequent hospital admissions and severe complications that sometimes bother on fatalities.

A lot of counsellors will advise couples in your situation not to go ahead with the marriage if they desire to have children.  Even though the chance is 50 per cent, it can translate to all children that you have coming down with the disease in the worst possible outcome.

This notwithstanding, other couples with your combination have decided not to have children and have enjoyed their marriage. I have given you enough background to aid in your decision making. I cannot insist you go ahead with the marriage or break it off. The choice still remains yours.

astom2@yahoo.com

 The writer is a member of the Paediatric Society of Ghana and the Director of Medical Affairs, Korle Bu Teaching Hospital.