The S trait
A True storyIt is always a time of celebration when a child is born in to a family, especially a boy. So it was for the family of Mr. and Mrs. Dodo. Their son, the second child was privileged to be born in a developed country. Amidst the joyful event, came a call from the hospital to inform the parents that the newborn screening test which was conducted on their son showed that he has sickle cell disease. The newborn screening test consists of different tests conducted on newborn babies to diagnose present and future health conditions of babies.
Mr. Dodo confidently told them that there was definitely a mix-up somewhere.
‘No, Mr. Dodo confidently told the healthcare providers. My wife and I know our genotypes. I am AA while my wife is AS, so it is not possible for our child to be an SS”.
Series of follow up tests were conducted which finally revealed that Mr. Dodo is a carrier of the S trait which resulted in the son being diagnosed with sickle cell disease.
Mr. and Mrs. Dodo were devastated. “This cannot be happening, Mrs. Dodo wailed. Why does our son have to go through this for the rest of his life?”
Mr. Dodo looked on, overwhelmed and not knowing how to respond. This was caused by the inadequate genotype tests he received from his home country Nigeria.
The couple had to be counseled and was comforted by the hospital that with early diagnosis and preventive medication, their son would be hale and hearty.
What then is sickle cell disease?
According to Allan F. Platt, James Eckman and Lewis Hsu in their book, Hope and Destiny, The Patient and Parent’s Guide to Sickle Cell Disease and Sickle Cell Trait, sickle cell disease is an inherited, lifelong problem that is located within the red blood cells of human body. It is caused by a change in the DNA code blueprint that alters the structure of hemoglobin. This alteration is called a mutation. Hemoglobin is an important chemical that delivers oxygen to the entire body. Sickle hemoglobin does not function properly because hemoglobin molecules stick together after they give up their oxygen in the small blood vessels of the body.
A single chemical substitution in the protein hemoglobin, inside the red cell, causes that cell to assume a hard sickle shape instead of the normal soft, stretchable, doughnut shape that allows red cells to move through blood vessels. The sickle shape causes blood flow blockages. It also causes the red blood cell to break apart causing anemia, or a low red blood cell count. The body pains and other complications in people with sickle cell disease are caused by these blockages and by anemia making it life threatening.
Sickle cell disease for long has been a global concern because of high mortality rate evidence especially in poor regions. Prevalence is higher in people from geographic areas where malaria was endemic. Today it is found in many countries around the world as populations have moved from place to place. Africa still has the highest incidence of trait and disease, with the incidence of sickle cell trait approaching 60% in some areas around the equator. Other territories around the world and the incidence of sickle trait are:
Brazil 7-10% Saudi Arabia 5-25% Cuba 5% Surinam 15%
Ghana 15% Greece 8-27% India 9-38% Puerto Rico 5%
Nigeria 24% Jamaica 10% W/Africa 15-25% Curacao 12%
Panama 12-14% Southern Italy 10% Venezuela 11%
Incidence of Sickle Cell Disease worldwide http://www.who.int/genomics/public/geneticdiseases/en/index2.html#SCA
Given these alarming figures, what do we do to give hope to those that have been diagnosed with the disease? Allan and his friends put together these basic principles to help us remember ways to prevent problems associated with the disease. In a simple acronym they are called FARMS where:
F is for fluids and fever. Drink plenty of water and manage fever by going to the hospital immediately.
A is for air. Make sure you get enough oxygen.
R is for rest. Get plenty of sleep and breaks when your body feels tired.
M is for prevention medications, like daily penicillin for children under six and vitamin folate (folic acid) needed to make new red blood cells.
S is for situations to avoid, like avoiding smoking, alcohol, or illegal drugs.
In addition to FARMS, immunizations should be cornerstone in the agenda of local and central governments through health institutions. This will help prevent infections which often trigger pain and other sickle cell crisis. A current listing of all recommended vaccines is available at government sites like www.cdc.gov.
Currently, the only cure available now for sickle cell disease is to destroy a person’s bone marrow with medications and replace it, or implant it, with marrow from another person, such as a sibling or other close relative. Today, however, there is much good news! In general terms, people with sickle cell disease live longer and more productive lives, due early detection, preventive medications, better education about the disease, and new treatments.
For the most part, developing countries especially those in the sub-Saharan Africa still have much to do to achieve success. Nigeria like many developing countries still grapples with problems associated with poor health facilities. This is worse in rural areas where large populations are not educated especially as it relates to awareness of certain health concerns and how to prevent or treat such when they occur. Interestingly, basic health education in areas like genes and human diseases if given adequate attention could bring about change needed.
It should be a norm in our society that intending couples planning marriage know their genotype. Consequently, experts and health systems should function to create awareness and educate people to know their genotypes before wedding. Future couples need to know the medical and long life condition which they are likely to encounter in the event that their genotypes are formed in such a way that they are both carriers of the S trait (AS). That inadvertently means that a child born has the probability of getting an S trait from each parent, making him or her carrier of two S which means he or she has the Sickle cell disease. Expectedly, this situation is heightened if one of the parents is AS and the other SS or both parents are SS.
Two carriers of one sickle cell gene, though they don’t have the disease themselves and do not suffer any symptoms may bring into the world a child with sickle cell disease who does suffer its serious effects. It is therefore important for intending parents to be mindful of what their child or children might suffer in the future. As complicated as educating people on such genetic issues might be, due to social and religious reasons, the need to reduce sickle cell disease should not be compromised. Community-wide concerted efforts involving influential people like traditional and religious leaders and elites like elected leaders, teachers especially college professors and government officials can help reach awareness goals. Hence institutions and unrestricted places like churches, mosques, schools, market places, parks, and hospitals are good avenues to educate the public on sickle cell disease. Since it takes the whole village to train a child, the whole village can prevent sickle cell disease through education and public awareness.