Thalassemia

Definition

Thalassemia syndromes are a heterogenous group of hereditary disorders of reduced hemoglobin synthesis. The patients can show a variable degree of hypochromic anemia with evidence of hemolysis and ineffective erythropoiesis.


It can be broadly classified according to the polypeptide globin chain that is suppressed:

  • Beta- thalassemia due to suppression of synthesis of beta-peptide chain synthesis
  • Alfa- thalassemia due to suppression of alpha-peptide chain synthesis
  • Delta- Beta thalassemia due to suppression of both beta and delta chain synthesis (HbF is high, moderate severity)
  • Delta-Gamma chain synthesis suppression is very rare


Beta Thalassemia

Pathogenesis

It is the commonest type of thalassemia syndrome observed all over the world. The Beta chain production may be either totally, partially or minimally depressed. Homozygous individuals usually present as thalassemia major or intermedia. Heterozygous individuals usually present as thalassemia minor.

Clinical features

Depend on the severity of the illness.

  • Infants are born normally
  • Minimal anemia during first three months of life
  • Infants gradually becomes increasingly pale, Pallor doesn't respond to iron or polyhematinic therapy
  • Abdomen is protuberant due to enlargement of liver and spleen
  • Children wo survive the first year of life usually show the mongoloid facies. These include bossing of the skull, prominent frontal and parietal eminences with flattened vault, straight forehead, hypertrophy of the maxilla, prominent malar eminences, depressed bridge of the nose ad puffy eyes.
  • The irregular fever due to increased metabolic activity and intercurrent infections
  • They often feed poorly
  • Episodes of aplastic crisis
  • Mild icteric tinge of the sclera
  • Slower growth rate puberty is also delayed
Course

The course of the illness depends on the severity in the disease. Death may occur in first few years of life due to severe anemia, anemia, cardiac or liver failure.

Investigation

  • Hemoglobin is usually between 2-6 gm/dl, HbF level is increased
  • Total erythrocyte counts are low, usually between 1-3 cu/mm
  • Reticulocyte count appears elevated
  • Hematocrit is reduced, MCV and MCH are low
  • In peripheral smear, red cells show hypochromia, anisocytosis and poikilocytosis, large number of early, intermediate and late erythroblasts are the most characteristic finding in the peripheral smear
  • Bone marrow is hypercellular with erythroid hyperplasia
  • High serum iron level, iron binding capacity is reduced
  • Serum bilirubin level is moderately elevated, often the range of 1-3 mg/dl
  • Urinary urobilinogen is only moderately increased but fecal stercobilingen excretion is markedly elevated 


Radiological changes

  • Bone changes in small bones of the hands which show a rectangular appearance
  • Wide medullary portion of the none
  • Bony cortex is thinned out


Thalassemia intermedia

It is a clinical manifestations are between major and minor thalassemia

Patient leads a normal life with occasional medical support. Diagnosis may be made at the age of 4 to 5 years.


Thalassemia minor

It is the mildest form of illness. Mild anemia which is often confused with iron deficiency anemia.


Treatment

  • There is no specific treatment for this disease. It is essentially symptomatic and supportive
  • Severe anemia is treated with repeated blood transfusions
  • Iron medication should be avoided. Attempt to keep the Hb level between 9 to 11 gm/ 100 ml of blood, so as to ensure active life and adequate growth. After several transfusions antibodies develop and frequent transfusion is necessary
  • Splenectomy can be performed in order to treat hypersplenism
  • Bone marrow transplant is another option


Homeopathy

Only constitutional treatment

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