Anemia with hepatosplenomegaly | Figure 1

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Internal Medicine

Anemia with hepatosplenomegaly

15 years old child has a long-standing history of anemia that required blood transfusions several times, jaundice, dysmorphic facies, small palpebral fissure, leukoplakia, normal IQ and developmental milestones, hepatosplenomegaly, gray hair, ectopic kidney. Blood film showed normochromic normocytic with borderline normal to high MCV, Hb electrophoresis was normal apart from slightly raised fetal Hb, negative Coombs test, slightly raised retic count, with indirect hyperbilirubinemia, normal liver enzymes.

His younger sister also has anemia.

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Case for discussion:
5mo old female infant – 6.6 kg
Normal vaginal delivery
Breastfed
Neonatal period within normal events
FH + ve consanguinity
Received blood transfusion twice by the age of 3 mo, and the age of 5 mo.
No organomegaly – no dysmorphic features
No jaundice
Investigations: before blood transfusions
Microcytic hypochromic anemia (HB 3.2, red cells 1.3, HCT 17, retic 2%) wbcs & platelets (N)
Serum iron (N)

33 years old female has microcytic hypochromic anemia more than 5 years iron profile high ferritin, low TIBC, Normal retics, ana negative, ds DNA negative, C3 and C4 normal, TSH normal, Coombs normal, liver and kidney profile normal, ferritin is 200, Hb electrophoresis normal, ESR 30 & 60, no fever nor weight loss, RF negative, anti-CCP negative.

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