Types, Symptoms and Complications of Thalassemia Disease

Definition of Thalassemia Disease:

Thalassemia is a heterogeneous group of disorder; all are characterized by absence or decreased synthesis of α or β chain of HbA. Thalassemia is a group of hereditary hemolytic anemia characterized by reduction in the synthesis of hemoglobin.

Thalassemia disease
Fig: Thalassemia disease

Classification or Types of Thalassemia Disease:

A. On the basis of affected hemoglobin chain –

  1. α –Thalassemia,
  2. β –Thalassemia.

B. On the basis of clinical behavior both are divided as follows–

1. α –Thalassemia-

  • Silent carrier,
  • α -Thalassemia trait,
  • HbH disease,
  • Hydrops fetalis (Hb Bart).

2. β –Thalassemia-

  • β -Thalassemia major (β °),
  • β -Thalassemia intermediate (β+),
  • B-Thalassemia minor (β).

Clinical Features of Thalassemia Disease:

Sign and Symptoms of Thalassemia Disease:

Symptoms of Thalassemia:

  • Patient is usually child,
  • The child fails to thrive,
  • Patient is apathetic and allergic,
  • May complain of breathlessness at exercise,
  • May complain of anorexia, diarrhea, and recurrent fever,
  • Lump in the left hypochondriac region,
  • Patient may show features of CCF,
  • Secondary sex characteristic may appear delayed,
  • If patient is in therapy, he/she may show the features of haemochromatosis,
  • H/O repeated blood transfusion and hospitalization,
  • Positive family history,
  • Growth retardation.

Signs of Thalassemia:

A. General examination:

1. Appearance: Thalassemia faces-

  • Frontal bossing,
  • Malar prominence,
  • Depressed nasal bridge,
  • Mal-occlusion of mouth,
  • Parietal and frontal prominence.

2. Body built: short statured

3. Anemia: Present

4. Jaundice– may be mild

5. Skin may be pigmented

6. Hair– Axillary, pubic hair may reduce

7. Pulse -Rapid

B. Alimentary system:

  • Splenomegaly, hepatomegaly.

Diagnostic Evaluation of Thalassemia:

1. Blood examination shows the followings:

  • Hemoglobin percentage-reduced usually 2 to 6 g/dl.
  • RBC count reduced, 2 to 3 million/cmm.
  • Fetal hemoglobin level (HbF) increased.
  • Hematocrit values are reduced, MCV MCH, MCHC values are low.
  • Reticulocyte count increased or may be low.
  • RBCs in peripheral smear shows-hypochromia, anisocytosis. poikilocytosis, microcytosis, nucleated RBCs and target cells.
  • WBC count may be reduced or sometimes increased.
  • Platelet count is usually normal or increased.
  • Serum bilirubin level is moderately elevated.
  • Serum iron level is high.

2. Bone marrow study shows hypercellular and erythroid hyperplasia.

3. Osmotic fragility test shows decreased fragility.

4. Radiological findings show skeletal changes including thinning of the cortex, widening of the If medulla and coarsening of trabeculations due to bone marrow hyperplasia in the long bones, metacarpals and metatarsals.

5. Skull bones show “hair-on-end” appearance due to vertical trabeculae or striations from widening of the diploic space and atrophy of the outer surface of the skull.

Complications of Thalassemia Disease:

Possible complications of thalassemia include:

In cases of severe thalassemia, the following complications can occur:

  • Bone deformities,
  • Enlarged spleen (splenomegaly),
  • Slowed growth rates,
  • Heart problems.

More questions related to this article:

  1. Define thalassemia.
  2. What is thalassemia?
  3. Classify Thalassemia.
  4. Write down the types of Thalassemia.
  5. Write down the clinical features of Thalassemia.
  6. Briefly describe the diagnostic evaluation of thalassemia.
  7. Write down the complication of thalassemia?

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