Sickle Cell Diseases

Define Sickle Cell Disease?

Sickle cell disease is a genetic disorder of red blood cells (RBCs).

Red blood cells are disc shape which provides them flexibility to pass out from blood vessels- arteries, veins, venules, capillaries.

In sickle cell disease, the shape of the RBCs changes to crescent shape and becomes abnormal in structure resembles like sickle which make the cells rigid and prone to getting trapped into small blood vessels and causes the deficiency of blood and oxygen which give rise to various signs and symptoms.

RBCs contains hemoglobin which is the carrier of the oxygen in the body as the shape of red blood cells changes the oxygen carrying capacity is also changes hence leading many severe symptoms.

Symptoms of Sickle Cell Disease

Symptoms of sickle cell disease appears in early age within after the  birth of 3-4 months.

  • Excessive fatigueness
  • Breathing difficulties
  • Pain in chest and limbs
  • Lethargy 
  • Irritability
  • Fussiness in babies
  • Crying due to pain in limbs
  • Sleep deprivation
  • Jaundice yellow colouration of skin and sclera.

Types of Sickle Cell Disease

According to the mutations of the genes different type of the sickle cell diseases are present.
  • Hemoglobin SS disease
  • Hemoglobin SC disease
  • Hemoglobin HB+ (beta) thalassemia disease
  • Hemoglobin HB0 (beta-zero) thalassemia disease
Hemoglobin is the protein in red blood cells that carries the oxygen. It normally has two alpha chains and two beta chains. The four main types of sickle cell anemia are caused by the different mutations in these genes.

Hemoglobin SS disease

This is the most common type of sickle cell diseases. it occurs when inherit copies of hemoglobin S gene from both the parents.
This forms hemoglobin known as Hb SS.
The symptoms are most severe and at the higher rates.

Hemoglobin SC disease

Hemoglobin SC disease is the second most common sickle cell disease.
It occurs when inherit the Hb C gene from one parent and Hb S gene from the other.
The symptoms are severe and most complex form same as the Hb SS disease.

Hemoglobin SB+ (beta)

Hemoglobin SB+ thalassemia affects beta globin gene production.
The size of red blood cells is reduced because less beta protein is made.
If inherited with the Hb S gene will be having hemoglobin S beta thalassemia.
The symptoms are not severe.

Hemoglobin SB 0 (Beta - zero) thalassemia

Sickle cell-zero thalassemia involves the beta globin gene. 
The symptoms are more severe and prognosis is poor.

Hemoglobin SD, hemoglobin SE,and hemoglobin SO

These types of sickle cell diseases are more rare and symptoms are also not so severe.

Risk of Sickle Cell Disease

Children are only at risk for the sickle cell disease if both the parents carry sickle cell genes.
People from some of the common regions are likely to be carriers such as-
  • Africa
  • India
  • Saudi Arabia
  • Mediterranean areas

Complications of severe Sickle Cell Disease

  • Severe anemia
  • Hand-foot syndrome
  • Splenomegaly
  • Jaundice
  • Delayed growth
  • Neurological effects-seizures, stroke, numbness
  • Eye problems
  • Lung diseases
  • Gallstones
  • Chest pain
  • Respiratory disorders

Diagnosis of Sickle Cell Disease

  1. Detailed history
  2. Personal and parental history
  3. physical examination
  4. Blood test
  5. Hb electrophoresis
  6. Ultrasonography
  7. Genetic testing

Treatment of Sickle Cell Disease

  • Blood transfusions
  • Ventilation support
  • Pain medications
  • Immunizations
  • Intravenous fluid

Home Care Treatment 

  • Physiotherapy modalities for pain relief.
  • Supplements of multivitamins
  • Dietary intake-fruits, vegetables,whole wheat grains
  • Physical exercises
  • Drink plenty of water and juices.

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