Sickle Cell Anemia: Causes and How To Manage Its Crisis

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The Genetic compositions determine and are responsible for our general appearance, behaviour and characteristics. They are hereditary, thus,  carried on from parents to their offspring which are either dominant or recessive across generations. Sickle cell anaemia is one of those genetically disposed disease traits that would occur only if a type of combination is achieved. It is a blood disorder in which there is an abnormality in the red blood cell oxygen-carrying molecule, haemoglobin. The condition is seen to be characterized by the red blood cells taking the shape of a sickle instead of an oval round shape. (Read an interesting article on how a child’s blood group is formed from the parent’s blood here)

The Major Cause of Sickle Cell Anemia

The cause is a genetic mutation in which an amino acid, known as “glutamic acid” which is present in a normal human specie, is replaced with another amino acid called the “valine”, thus changing the structure and function of the individual genome. This occurs according to the order of single nucleotide polymorphism and is responsible for the phenotypic difference that increases the individual’s tendency toward disease. When this occurs, the red blood cell which would live for up to four months dies at between ten to twenty days. The dead cells then form clumps which may obstruct blood flow by cleaving to the walls of blood vessels. By cumulative effect, all these may lead to a reduced flow of blood to major body organs and their subsequent damage.

Consequences of Two Carriers Getting Married

Doctors and good counsellors would often discuss the dangers of two individuals who have carrier traits getting married(read more on the importance of knowing your genotype and blood group before marriage here ). This is still about the best preventive measure to avoid producing offspring that would suffer the disease. This is so since genes for traits are inherited from both parents. An explanation for this is that, if two persons who are carriers of the trait produce offspring, there would be a definite passing of the abnormal gene from both parents to at least one of the offspring.  It is still preferable, but not that safe when a homozygous normal person marries a heterozygous normal person where chances of having an affected offspring are eliminated but with just 25% (one out of four children), having the carrier trait.

Many people ignorantly or stubbornly go into marriage without adequately weighing the options of which the consequences are unpalatable. The marked feature of a sickle cell patient is numerous crisis periods, characterized with severe pain as a result of acute and chronic health issues. In cases where management is poor, death may occur earlier than expected. Analysis has shown that most death from sickle cell anaemia is found in children and very young adults. Due to the short lifespan of the red blood cells, anaemia often follows. Crisis manifestations are of various types which may be accompanied with severe pain, necrosis, acute chest pain, respiratory symptoms etc. Even with these presentations, the causes are not known most times. In patients with low glucose-6-phosphate dehydrogenase (G6PH), it is not uncommon that there is a rapid decrease in blood level and transfusion may be required. The sickle cell has a rigid structure and is not elastic as the normal red blood cell, thus affecting its function and passage through narrow capillaries.

How To Manage Sickle Cell Crisis

Usually, proper management may help see the individual live up to middle age. Bone marrow transplant seems a potential cure but it is quite complicated and life-threatening. The use of the drug hydroxyurea (stimulates the production of a type of haemoglobin that helps prevent the formation of a sickle cell), early vaccination and use of prophylactic antibiotic doses would reduce complications associated with the disease. To achieve this, treatment must be commenced in early life or as soon as the first symptom presents. One of the earliest manifestations is “dactylitis” and may present as early as six months of age. To know if an unborn child has the disease, a test could be carried out on a sample of amniotic fluid surrounding the foetus. The child should be placed on medication that would help boost red blood cell production after birth, such as a daily dose of folic acid.

Also, in sickle cell management, the objective is to reduce pain, avoid complication and to reduce symptoms. Patient must be aware of the pros and cons of his condition and must ensure to visit the doctor on regular check-ups for the blood level. In crisis management, heat may be applied to painful areas for relief.

Other management procedures would include stroke risk assessment in which patients are tested for susceptibility to stroke and are placed on regular blood infusions. It should be noted that sickle cell patients are susceptible to the malaria parasite (unlike the carrier individual, who is quite resistant), and should be given anti-malaria chemoprophylaxis for life. For pain control, “opioid analgesics” may be administered with varying doses according to patient requirement.

Good luck

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