People of african, mediterranean,
hispanic or middle eastern descent share an increased risk for sickle cell
anemia, a genetic condition characterized by the presence of abnormally shaped
and defective blood cells.
Of all ethnic groups, Africans (specially if the come or have ancestry from central Africa) have the highest risk. In some countries, nearly 10% of the black community suffers from this condition. Interestingly, in Pakistan, the incidence of sickle cell anemia (SCA) so far has been reported as very low, hence, this condition is fairly rare we’ll provide you with the most relevant information about it.
What is a Sickle Cell?
A sickle cell is simply a red blood cell or erythrocyte with an abnormal shape (sickle) as a consequence of the presence of a mutated form of hemoglobin (the main protein involved in oxygen transport) on its surface.
What is Sickle Cell Anemia?
Sickle cell disease (SCD) is a group of hereditary conditions discovered in 1910 and characterized by production of mutated hemoglobin (Hb) hence, it leads to altered red blood cells. Each particular condition within this group represents a different mutation that affects how Hb is synthesized.
Sickle cell anemia is caused by a very particular mutation in a single gene and is the most common case of SCD. Red blood cells from people with this condition usually have lives 10 times shorter that is why they are less efficient at transporting oxygen than their normal counterparts.
Having sickle cells is problematic for many reasons, some of the most common consequences are: Frequent obstruction of small blood vessels and destruction of abnormal red blood cells (haemolysis). These 2 features are the main reasons for the variety of symptoms associated with this disease. SCA begins at infancy (5 to 6 months) and over time causes organ damage. 50% of untreated individuals don’t survive beyond their 50’s.
As we mentioned above, your ancestry is extremely important. SCA is a genetic condition caused by a recessive autosomal mutation, therefore, is not directly related to gender and will only manifest as SCA if both of your parents have the mutation. Recessive traits only really manifest when an individual has mutations in both copies of a particular gene. People with only 1 copy of the defective gene won’t show any symptoms and can have perfectly normal lives.
Sickle cell Anemia can be diagnosed with a series of lab tests. Most tests seek to detect the presence of abnormal hemoglobin.
There are a few treatments an a
single known cure for SCA.
drug comes from a family of toxic agents, however, under therapeutic doses is
safer (few side effects), promotes the production of healthy haemoglobin,
reduces the frequency of painful episodes, hospital admissions and the need for
Research suggests this drug may
have several other important beneficial effects.
Blood transfusions: Transfusions help restore normal concentrations of red blood cells, inhibits the synthesis of abnormal hemoglobin and as a consequece helps against haemolysis.
Iron chelation: Usually
done with desferrioxamine. This procedure helps with the iron accumulation
frequently associated with chronic SCA.
Stem-cell therapy: Cell transplantation of hematopoietic cells (cells responsible of producing blood cells). As a consequence of this method the faulty cells from your bone marrow with healthy cells.
This is the only known cure, however, very few of these interventions were performed because of the logistic complications of finding a donor and the risk associated to the procedure. SCA is a manageable genetic condition however, it can have a very strong effect over life expectancy. People with family history should get tested in order to determine the presence or absence of the associated mutation within them before having kids. Genetic counseling is highly recommended in such cases. Hence, in order for it, please do not hesitate to book an appointment and visit a doctor.