SICKLE CELL ANEMIA

Description

It is an an inherited form of anemia and a condition in which there aren’t enough healthy red blood cells to carry adequate oxygen throughout your body.
types of sickle cell anemia :

  1. Hemoglobin SS disease
  2. Hemoglobin SC disease
  3. Hemoglobin SB+ (beta) thalassemia
  4. Beta-zero thalassemia

Symptoms

  1. excessive fatigue or irritability (from anemia)
  2. fussiness (in babies)
  3. bedwetting (from associated kidney problems)
  4. jaundice (yellowing of the eyes and skin)swelling and pain in hands and feet
  5. swelling and pain in hands and feet
  6. frequent infections
  7. chest pain

Causes

a mutation in the gene
If both parents are sickle cell carriers, there’s a:

  1. 1 in 4 (25%) chance each child they have will not inherit any faulty genes and won’t have sickle cell disease or be able to pass it on
  2. 1 in 2 (50%) chance each child they have will just inherit a copy of the faulty gene from one parent and be a carrier
  3. 1 in 4 (25%) chance each child they have will inherit copies of the faulty gene from both parents and will be born with sickle cell disease

Risk Factors

People from regions that have endemic malaria are more likely to be carriers
people from:

  • Africa
  • India
  • the Mediterranean
  • Saudi Arabia

Diagnostic Tests

  • Hb electrophoresis
  • blood counts can reveal an abnormal Hb level in the range of 6 to 8 g/dL
  • blood films may show RBCs that appear as irregularly contracted cells
  • sickle solubility tests look for the presence of Hb S
  • screening

Treatments

  • pain relievers
  • antibiotics
  • hydroxyurea
  • vaccinations
  • red blood cell transfusion
  • supplemental oxygen
  • stem cell transplant, also called a bone marrow transplant,
  • drugs to devise a way to boost the production of fetal hemoglobin
  • statins
  • Gene therapy

Medications

  • penicillin
  • Hydroxyurea (Droxia, Hydrea)
  • paracetamol/ibuprofen

Lifestyle Management

  • Talk to a genetic counselor
  • drink plenty of water
  • avoid temperature extremes
  • exercise
  • use medications
  • fly on plane with pressurised cabins
  • folic acid supplements
  • avoid infections