Hematology
Thalassaemia
​Overview:
  • Thalassaemia is an inherited blood-related genetic disorder in the red blood cells.
  • Symptoms depend on the type and can vary from none to severe
  • One's spleen may enlarge due to iron overload instead of reusing it.
  • To prevent thalassaemia, a comprehensive premarital screening is required
  • Consult a doctor before taking any drugs or food supplements.
 
What is thalassaemia?
Thalassaemia is an inherited disorder affecting the blood cells, producing either no or too little haemoglobin, which is used by red blood cells to carry oxygen around the body. Lack of haemoglobin results in reduced oxygen to every cell in the body.
 
Other Known Names:
It is also known as (Mediterranean Anemia) as it mainly affects people around the Mediterranean.
 
Types:
 

The types of thalassaemia a person may have are down to:

  • The faulty gene one has inherited (alpha or beta).
  • The severity.
 
First Type: Alpha thalassaemia:
  • Haemoglobin contains four chains of alpha genes, two each from both father and mother. An impaired production of alpha chains result in (Alpha-thalassaemia).
  • If one of the α genes is absent: a person becomes a silent carrier with no visible symptoms.
  • If two chains are impaired: The alpha thalassaemia trait may have some invisible symptoms, which can be detected by blood tests.
  • If three of the α genes are inactive: it represents a severe anemia, with mildly to moderately severe symptoms, including enlarged spleen or bone deformities.
  • When all four alleles are affected: most babies die during pregnancy or soon after birth.

Second Type: Beta thalassaemia:

  • Haemoglobin contains two chains of beta genes, one each from both father and mother. An impaired production of beta chains lead to (Beta thalassaemia).
  • If only one of β alleles bears a mutation (Thalassemia minor): people with thalassaemia minor have mild symptoms such as very minor anemia detected by routine blood tests. They need blood transfusion to lead a normal life.
  • If two β alleles bear a mutation (Thalassemia intermedia):people suffer severe anemia, bone deformities and enlarged spleen. They need occasional blood transfusions to manage a normal life. New born babies develop symptoms during their first two years. 
 
Causes:
Thalassaemia is caused by mutations in the DNA of cells that make hemoglobin. Such mutations are passed from parents to children.
 
Symptoms:
Symptoms vary based on thalassaemia type and severity. Some children with thalassaemia develop symptoms since birth, while others show within their first two years. Thalassaemia traits (with one gene mutation) may not suffer visible symptoms.
 
Main Symptoms:
  • Fatigue and weakness.
  • Pale or yellowish skin.
  • Dark urine.
  • Delayed growth.
  • Shortness of breath.
  • Abdominal swelling.
  • Bone deformities
  • Frequent inflammations.
 
Complications:
  • Sever anemia, feeling tired and weak.
  • Slowed growth and delay in puberty.
  • Enlarged spleen (splenomegaly) and abdominal swelling due to iron overload instead of reusing it.
  • Blood coagulation due to splenectomy, leading to depressed platelet count.
  • Folic acid and B12 deficiency.
  • Bones deformities.
 
Treatment:
Treatment for thalassaemia depends on which type you have and how severe it is. Some treatments of mild to sever cases include:
 
  • Blood transfusion:Mild to severe forms of thalassaemia often require frequent red blood cells transfusions.
  • Stem cell transplant (bone marrow transplant): Stem cell transplant may be an option in severe thalassaemia cases.
  • Iron overload treatment:Doctors may remove excess iron. Some patients may need chelation therapy, which is when doctors give a medicine – either a birth control pill or a shot under the skin.
 
General Principles:
  • Avoid routine use of iron or food supplements without doctor's supervision.
  • Eat healthy balanced meals.
  • May take folic acid to help the body produce red blood cells, in addition to calcium and Vitamin D to have healthy bones.
  • Maintain personal hygiene to prevent infection, mainly with splenectomy cases.
  • Take vaccines, including: annual influenza vaccine ... etc. to prevent infection.
 
Prevention:
Thalassaemia is a group of inherited diseases that cannot be prevented. A person with thalassaemia infection or trait should consult a specialist in genetic disorders.
To prevent vertical transmission, premarital screening is recommended to verify whether man or woman carries mutant chains of genes.
 
 
 
 
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Last Update 04 March 2018 11:11 AM
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