Genotype is the genetic constitution of an individual organism, it indicates the certain gene that an individual is carrying. Genotype is part of the genetic makeup of a cell.
The red blood cells contains hemoglobin : Hemoglobin is a substance which helps in carrying oxygen to the tissues.
Hemoglobin comprise of - Heme and Globin; the heme and globin are two pairs of protein chain.
When we have an amino acid substitution, specifically in the globin chain, then certainly, there is an abnormality.
Note : Amino acid are the building blocks of protein.
Let's say the chain suppose to consist of amino acid 'D' but it is instead substituted for 'F' at a particular point of the chain, then, there is definitely an error which would lead to abnormality.
Types of genotype
- AA : At the sixth position of both Globin chains, we have 'Glutamate'(Normal)
- AC : At the sixth position of one of the Globin chains, we have 'Lysine'
- AS : At the sixth position of one of the Globin chains, we have 'Valine'
- CC : At the sixth position of both Globin chains, we have 'Lysine'
- SC : At the sixth position of one of the Globin chains, we have 'Valine' and on the sixth position of the other, we have 'Lysine'
- SS : At the sixth position of both Globin chains, we have 'Valine'
AA, CC, SS are homozygous while AS, AC and SC are heterozygous.
Since we are aware that the hemoglobin 'A' is the only normal hemoglobin among the hemoglobin A, C and S , and either when it's in homozygous form (AA) or when it becomes heterozygous with any of the other two e.g AC or AS, it can still support them to work and function PERFECTLY.
The remaining explanation shall now base on the other two hemoglobins (C and S).
Hemoglobin C disease is a mild disorder that generally does not cause any symptoms and it's associated with a normal life expectancy.
Individuals with hemoglobin C in it's homozygous form i.e Individuals with genotype CC, have normal growth and development and they will naturally experience pregnancy and surgery without any problem that could be associated with their genotype.
Occasionally, some of them may experience a 'mild' hemolytic anemia (under stress), splenomegaly and borderline anemia, but over all splenic function would not be affected as with diseases causing chronic hemolytic anemia.
It should be noted that hemoglobin C disease is not a form of sickle cell disease. People with CC genotype lead a normal life, especially when they are exposed to genetic counselling and anticipatory guidance.
Significant clinical consequences majorly occur in hemoglobin C when it becomes heterozygous with hemoglobin S i.e SC
genotype.
Clinical manifestation in Hemoglobin SC disease are generally similar to that of Hemoglobin SS disease, though, LESS SEVERE. Some people with SC genotype even have normal hemoglobin levels. Individual with hemoglobin SC disease may physically look frail but healthy and in some cases, they look healthy and physically fit.
Complications like vascular retinopathy and a vascular necrosis of the femoral head may occur more frequently in the hemoglobin SC, though, not in all cases. The SC heterozygous combination is more common in blacks than the homozygous CC combination because the percentage of blacks that usually carry the hemoglobin S trait are more than those with hemoglobin C trait.
Hemoglobin S disease (SS) : is a sickle cell anemia, this occur when the amino acid in position six of both globin chains is Valine instead of glutamate, therefore changing its structure and the way it functions. The Valine which is hydrophobic causes the hemoglobin to collapse on itself occasionally, the red blood cells become sickle shaped after enough hemoglobin had collapsed, causing regular crisis for the individual.
Though, SC and SS are the most unfavorable type of genotype among all but SS is always the worse.
Permanent solution to SS at the moment is Bone Marrow Transplant which is very expensive and in some cases, could have some risk to the health, thus, it is advisable to avoid reproduction of individual with SS genotype by all means.
Related : Rhesus factor and incompatibility : What you need to know
Once you find that partner of yours, it is important to know his/her genotype before you embark on that life journey.
Clinical manifestation in Hemoglobin SC disease are generally similar to that of Hemoglobin SS disease, though, LESS SEVERE. Some people with SC genotype even have normal hemoglobin levels. Individual with hemoglobin SC disease may physically look frail but healthy and in some cases, they look healthy and physically fit.
Hemoglobin S disease (SS) : is a sickle cell anemia, this occur when the amino acid in position six of both globin chains is Valine instead of glutamate, therefore changing its structure and the way it functions. The Valine which is hydrophobic causes the hemoglobin to collapse on itself occasionally, the red blood cells become sickle shaped after enough hemoglobin had collapsed, causing regular crisis for the individual.
Though, SC and SS are the most unfavorable type of genotype among all but SS is always the worse.
I believe this article has helped you to know the compatibility among the genotypes.
Related : Rhesus factor and incompatibility : What you need to know
Once you find that partner of yours, it is important to know his/her genotype before you embark on that life journey.
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