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AS/AS Genotype Talk: Shall We?

Perhaps one of the most interesting aspects of the medical profession is that unique feeling that comes with being appreciated by your patient not just after the successful treatment of an ailment but following a counselling session concerning a troubling issue.

One of such issues is that of Genotype Compatibility; the probability of having SS or SC babies in As/As or As/Ac marriages respectively, and the options available to such couples during pregnancy and after the child is born. I have been opportuned to counsel several patients , and even some friends on this very worrisome topic especially amongst young people who are about to settle down.

The neglect of genotype and the attendant grave consequences and social implications of having a sickle-cell child in today's world is increasingly being frowned upon in many quarters and the awareness continues to grow. Many Churches have infact put in place stringent laws to verify the genotype content of intending couples before walking them down the aisle.

Although the final say rests squarely on the intending couples, most Christian organizations have continuously advised "genotypically" incompatible couples against tying the nuptial nut. The advice has become necessary considering the trauma most families have found themselves as a result of ignorance or neglect of the life time consequence of the importance of ascertaining genotype before proclaiming “I do”.

However, with the advent of science, the quest for knowledge and a desire to ensure couples and their HbSS (Haemoglobin SS) child(ren) enjoy a good and trauma free life, several options (ranging from diagnostics to therapeutics) are becoming available in different parts of the world with appreciable success being recorded on nearly a daily basis. Present medical options include prenatal diagnosis, In-vitro fertilization (IVF) and Bone-marrow/Stem-cell transplant after the child is born, all of which are relatively expensive, and are surrounded by notable ethical issues.

I recently received a call from an AS friend (married to an AS wife) whom I had counselled on the option of prenatal diagnosis, he was absolutely elated to share the news of the test result with me (his wife wasn't going to be having an SS's was infact an AA foetus she was carrying). I am not too sure if he would have being happy to share the news with such excitement if the result had turned out otherwise, but thankfully it didn't. This just goes to show how much scientific advancements are helping couples faced with the genotype dilemma.

Conversely, scientists continue to work tirelessly and are making progress in the development of new medications that prevent the problems in sickle cell patients ; sickling of the red blood cells, improvimg blood flow and delivery of oxygen to the body. Some of these new treatments are already being tested in patients with sickle cell disease, with remarkable results too. With all these improvements in treatments people with sickle cell disease now live longer and have a better quality of life. 

To be Continued....

Medic-ALL.Inc 2014

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