Congenital Hemolytic Anemias Case Study No.5

This is our case study No 5 and in this study case we are going to discuss about how to diagnose Congenital Hemolytic Anemias likely likely b-thalassaemia major. Pathology students should read this case scenario care fully and try to understand it.

Congenital Hemolytic Anemias Scenario:

A 3-year-old girl is brought to the pediatrician by her mother with persistent paleness, growth retardation, and a protruding abdomen. The mother herself is also mildly anemic, which she says has remained that way for as long as she can remember and has not improved with any medication. The child’s facial appearance shows prominence of the forehead and slightly protruding cheeks and upper teeth. On examination, the child is pale ++ but without apparent jaundice or cyanosis. On palpation of the abdomen, the spleen is enlarged two fingers below the costal margin and the liver is barely palpable. There are no lymphadenopathy. CVS and respiratory system are normal.


  1. Discuss the clinical correlation with pathogenesis of the features.
  2. What is the probable diagnosis?
  3. How will you investigate and confirm the diagnosis?

Correlation :

This child has severe anemia with expansion of the bones of the cheeks and forehead due to hyperplasia of the bone marrow. Growth retardation is due to iron deposition in the pituitary gland. The bulging abdomen is due to a moderately enlarged spleen and slightly enlarged liver. This constellation of clinical features is due to hereditary hemolytic anemia. The mother also has a persistent mild chronic anemia from the early years that could be due to a thalassemia trait.

Probable Diagnosis

Congenital haemolytic anaemia, likely b-thalassaemia major


Now as a photolist you need to investigate this casse of

Screening tests:

  1. CBC (haemoglobin, counts including reticulocyte count, indices), ESR, PCV, blood smear for type of anaemia.
  2. Urine examination (albumin, glucose, microscopy).
  3. Biochemical estimation: Renal function tests (urea, creatinine, BUN), liver function tests (bilirubin, ALT, AST, alkaline phosphatase, total proteins and AG ratio).
  4. Serology for HBV, HCV, HIV.
  5. X-ray chest.
  6. Ultrasound examination of abdomen.
  7. Family study for thalassaemia trait.

Further tests

Additional tests can be conduct in order to diagnose Congenital haemolytic anaemia, likely b-thalassaemia major.

  • Estimation of foetal haemoglobin.
  • Haemoglobin electrophoresis.
  • Osmotic fragility test
  • Serum estimation of iron, TIBC, ferritin.
  • Bone marrow examination.

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