Page 289 - Abstract Book KONIKA 18

Neonatology

P-NEO-008
Severe Hyperbilirubinemia: Is It Hereditary Spherocytosis?

Charity Monica, Brigitta I. R.V. Corebima, Eko Sulistijono
Department of Child Heatlh, Faculty of Medicine, Universitas Brawijaya Malang, East Java, Indonesia

Abstract
Background Hereditary spherocytosis is an autosomal dominant inherited disorder which causes severe
hyperbilirubinemia in neonates. It occurs in 1 in 2000 individuals of Northern European descent. This
disease is less common in other ethnicities. There is no definite data about the prevalence in Indonesia.
Objective To make diagnostic approach of hereditary spherocytosis in neonates with severe hyperbilirubinemia.
Case A-five-day old baby was referred to Saiful Anwar General hospital with a history of krammer 5 icterus
since <1 day old and 2x24 hours of phototherapy. From physical examination, there was no splenomegaly
found. Laboratory examination revealed bilirubin total level 28.83 mg/dL, indirect level 25 g/dL, hemoglobin
level 10.3 g/dL, MCHC level 36.9 g/dL, RDW values 18,7%, with negative coomb’s test. The baby got 2x12
hours of phototherapy with intensive phototherapy unit bilisphere 360 LED. From the laboratory examination
evaluation, the total bilirubin level dropped to 12.19 mg/dL with persistent high MCHC and RDW level
showing anisocytosis. There were also spherocytes from the blood smear. From general history, there were
history of recurrent paleness and jaundice from the baby's mother, grandmother, and older brother. The mother
and grandmother had underwent bone marrow puncture both concluding hereditary spherocytosis diagnosis.
From the general history, physical examination, and basic laboratory examination, it can be concluded that
the baby was also diagnosed with hereditary spherocytosis. Conclusion If we find a newborn with severe
hyperbilirubinemia, we could make hereditary spherocytosis as one of differential diagnosis.
Keywords: hereditary spherocytosis; bilirubin; MCHC; RDW

KONIKA XVIII Abstract Book 241