Sickle Cell Anemia

Overview

Sickle Cell Anaemia is a form of anemia which can be genetically inherited to cause qualitative problems of red blood cell production known as HbS in the body. The risk of life-endangering complications arises when the patient is in an environment which has a low oxygen supply for example at high altitude and during exercise.

Signs and Symptoms

Jaundice, Pallor, Lethargy, Growth restriction, General weakness, Increased susceptibility to infections, Enlarged spleen and liver, Delayed puberty, Swollen painful joints, Difficulty breathing, Loin pain, Stroke, Seizure, Fever, Vision problems, Abdominal swelling, Abdominal pain

Common Causes

HbS arises from a mutation substituting thymine for adenine in the sixth codon of the beta-chain gene, GAG to GTG. This causes coding of valine instead of glutamate in position 6 of the Hb beta chain.

Risk Factors

Parents who are carriers of the diseased gene, People of African and Middle East origin, The following are risk factors that bring about the disease crises: Cold weather, Hypoxia, Infection, Dehydration especially from exertion or during a warm weather, Acidosis, Alcohol intoxication, Emotional stress, Pregnancy, Parvovirus B19 infection, Folic acid deficiency, Ingestion of bone marrow toxins such as phenylbutazone

Investigation Techniques

Full blood count, Full blood picture, Peripheral blood smear, hemoglobin solubility test, Haemoglobin electrophoresis, Serum creatinine, Serum urea, Liver function test, Lung function test, Infection screen, Urinalysis, Arterial blood gas, Chest X-ray, X-ray of the affected joints

Treatment and Prevention

Avoid situations that can precipitate crises, Avoid alcohol, Folic acid supplementation, Good support for patients families and other care takers, Penicillin prophylaxis, Blood transfusion, Partial exchange transfusion, Iron chelation therapy, Hydroxycarbamide, Bone marrow transplant