SICKLE CELL ANEMIA

Sickle cell anemia, it is also called sickle cell disease (SCD), it’s a genetical disorder of the red blood cells (RBCs). Basically RBCs takes disc-like shaped which provide them with the flexibility to move through even the thinnest blood vessels. This makes them sticky and rigid to getting trapped in small vessels, which blocks blood from reaching different parts of the body. This can cause severe pain and damage to the vascular tissues system of the body.

SICKLE CELL ANEMIA

  • SCD is an autosomal recessive condition. You need double copies of the gene to have the disease.
  • If you have only a single copy of the gene, you are said to have sickle cell trait.
  • symptoms of sickle cell anemia.
  • Symptoms of sickle cell anemia mainly show up at an early age.
  • They may appear in babies as early as 4 months old but generally occur around the 6-month mark.

SYMPTOMS


  • there are multiple types of SCD, they all have similar symptoms, which vary in severity. These include:
  • excessive fatigue or irritability, from anemia fussiness, in babies
  • bedwetting, from associated kidney problems
  • jaundice, which is yellowing of the eyes and skin
  • swelling and Joint pain in hands and feet
  • frequent infections
  • pain in the chest, back, arms, or legs.

TYPES OF SCD


Following are the most common types of SCD:

HBSS

  • A person who has this type of SCD inherit two sickle cell genes (“S”), one from each parent.
  • This is commonly called sickle cell anemia and is usually the serious form of the disease.

HbSC

  • A person who has this type of SCD inherit a sickle cell gene (“S”) from one parent and from the other parent a gene for uncommon hemoglobin called “C”.
  • This is usually a mild type of SCD. HbS beta-thalassemia
  • There are two types of beta-thalassemia: “0” and “+”. Those with HbS beta 0-thalassemia usually have a serious form of SCD.
  • People with HbS beta +-thalassemia tend to have a mild form of SCD.

THERE ALSO ARE A FEW RARE TYPES OF SCD

  • HbSD, HbSE, and HbSO
  • People who have these forms of SCD inherit one sickle cell gene (“S”) and one gene from an abnormal type of hemoglobin(“D”, “E”, or “O”).
  • The severity of these rarer types of SCD varies. Sickle Cell Trait (SCT)

HHbS

  • People who have SCT inherit one sickle cell gene (“S”) from one parent and one normal gene (“A”) from the other parent. This is called sickle cell trait (SCT).
  • People with SCT usually do not have any of the signs of the disease and live a normal life, but they can pass the trait on to their children.

DIAGNOSIS


  • A blood test can determine for the defection of defective hemoglobin that underlies sickle cell anemia.
  • In the US, this blood test is part of routine newborn screening. But older children and adults can also be tested, too.
  • In adults, a blood sample is taken from a vein in the arm. In young children and babies, the blood sample is usually drawn from the tip of the finger or heel.
  • The sample is then sent to a haematology lab, where it’s checked for the defective hemoglobin.

TREATMENT


  • Hydroxyurea (Droxia, Hydrea, Siklos). Daily hydroxyurea lowers the frequency of pain and might drop the need for blood transfusions and hospitalizations.
  • It can also increase the risk of infections. This drug is restricted for the pregnant woman.
  • L-glutamine oral powder (Endari).
  • Recently FDA approved this drug for the treatment of SCD. It helps in reducing the frequency of pain.
  • Crizanlizumab (Adakveo). This is given through a vein, it helps in reducing frequency of pain. Side effects can include nausea, joint pain, back pain and femur.

REFERENCE


  1. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3222266/
  2. https://www.ncbi.nlm.nih.gov/books/NBK526064/