Abdulmalik!Abdulmalik!!Abdulmalik!!! Anty Salma kept screaming as she watched the life leave his body, it had been 3 days of ups and downs at the Shehu's Residence due to Abdulmalik"s CRISIS. The deceased, Abdulmalik was a promising 18-year sickle cell patient who had just gained admission into the University to study Computer Science.Hmmmm!How sad!am sure a lot of families can relate it, some have even been through a lot worse, a friend told me that she knows a woman with 2 kids with the SS Genotype!I was shocked!2!not just a kid but 2,I had to ask how come?Doesn't she not know her genotype?My friend told me that the lady's husband lied about his genotype before they got married, unfortunately both of them are SICKLE CELL CARRIERS (AS).
HELLO GUYS!!!Today's post is to raise awareness of the Sickle Cell Disease and commemorate World Sickle Cell, 2016. We feel the best way to raise awareness is to pass information on the subject of interest which is KNOWING ONE's GENOTYPE.
Genotype is a part of the genetic composition of a cell which determines specific characteristics of a living being, they are a group of genes passed from PARENTS to CHILDREN.Sickle cell happens when there is a blockage in the blood vessels which reduces the oxygen flow,when the red cells do not possess adequate oxygen, its true shape (Disc Shape) becomes Sickle-like, or Crescent-like shape, resulting to the name SICKLE CELL. People with sickle cell go through a lot of pain in the body parts experiencing oxygen deficiency.
Lets go back to the Red Blood Cells which are the major constituents of the BLOOD. This cells passes HEMOGLOBIN which makes RBCS very significant to a humans life. The hemoglobin is made of 2 parts (HEME and GLOBIN which we would be focusing on), the globin has 2 pairs of proteins chains, 2 alpha and 2 beta globin chains and there is a way this chains are suppose to be arranged. A misplay can happen when a protein substitution occurs in any of the chains resulting in alteration of the chains arrangement which could lead to an Abnormality.
This substitution may occur at any point either the Alpha or the Beta chains and remember we are focusing on the genotype AA, AS, SS, AC.
Genotype AA- At position 6 of both chains, the amino acid(which is the building block of proteins) is GLUTAMATE.
Genotype AS- At position 6 of one globin chain is GLUTAMATE and at position 6 of the second chain is VALINE.
Genotype SS- For this genotype, VALINE is present at both globin chains.
Genotype AC- GLUTAMATE is at position 6 of one globin chain and LYSINE at the position 6 of the second globni chain.
Hemoglobin are of different types which are Hemoglobin A, S, and C, Although Hemoglobin C is uncommon.
Making it of utmost importance for couples to know their genotype at the early stage of the relationship before they get so into each other and begin to make statements like "In ba ke ba sai rijiya" - 'If no be you na well i go love'. The emotions felt by the couple could affect their judgments resulting in the birth of sickle cell children if their GENOTYPES are not compatible, Hence subjecting themselves and their offspring's to a lot of pain.
There are 4 major Genotypes - AA, AS, SS, and AC, AC genotype is rare while SS and SC are abnormal genotypes.
Now we know about the various genotypes, Let's find out HOW PEOPLE GET THEIRS.
From your parents! If papa Ebuka has a genotype of AA and mama Ebuka has a genotype of type AS their kids genotype would be
AA+AS= AA, AS, AA, AS
Lets look at the possible outcomes of other Genetic combinations.
AA + AA = AA, AA, AA, AA
AA + SS = AS, AS, AS, AS
AA + AC = AA, AA, AA, AC
AS + AS = AA, AS, AS, SS
AS + SS = AS, SS, SS, SS
AS + AC = AA, AC, AS,SC
SS + SS = SS, SS, SS, SS
AC + SS = AS, AS, SS, SS
AC + AC = AA, AC, AC,CC
Symptoms of Hemoglobin C
Most people do not have symptoms but at times, Jaundice may occur
Complication of Hemoglobin C
They may experience the following;
Splenomegoly (Big spleen)
Poor vision (Angloid streaks)
Cholelithiasis (Gall stone they may requir treatment)
Aplastic crisis (As a result of viral infection)
There is no treatment but Folic Acid supplementation should be taken to help with RBC production and improve symtoms of anaemia
AA: Normal properties
AS: No symptoms
AC: No symptoms
SS: Sickle Cell diseases
CC: as described above
SC: recurrent anaemia and pain crises,others may experience aseptic necrosis of the femur bone.
Please knowing your genotype is important, some people would say I DONT KNOW my genotype but am sure of not being a Sickle Cell Carrier because I hardly get sick but mind you some people with SS genotype may live normal lives until their 40s but before their crisis starts. People with AS or AC or SS or SC or CC can't marry each other, If they want to avert SC or SS. they must marry a person with the AA genotype, if they do not want their offspring to have Sickle Cell Syndrome.
BMT is the only thing that could possibly change the genotype of a person. Bone Marrow Transplant Technology has shown to be the only PERMANENT core to SS, SC and CC. Although it is new and very very expensive and cannot be done in Africa and it has its risks.
Thank you guys and a big shout to everyone who made this blog post a success, We say THANK YOU. XOXO!!!