Clinical history
The affected male newborn presented with jaundice without other
pathological symptoms or signs since 2 hours after birth. Then, the
routine blood examination showed that he suffered from mild hemolytic
anemia with neonatal hyperbilirubinemia and sphere-shaped erythrocytes
on peripheral blood smear (Figure 1B). And his Hb values decreased
sharply over the subsequent 9 days (Table.1). The erythrocyte osmotic
fragility test was positive while both glucose-6-phosphate
dehydrogenase(G-6-PD) screening test and Coombs’ test were negative.
Hemoglobin electrophoresis analysis using for thalassemia preliminary
screen was negative. High bilirubin susceptibility gene (5 mutation
sites of UGT1A1) mutation test using Sanger sequencing were also
negative. The male newborn took treatment in hospital for 2 weeks,
including twice blood transfusions.
Therefore, we traced the family history again and found that the mother
had undergone a total splenectomy for severe hemolysis and jaundice when
she was 12 years-old. The proband’s farther and sister were clinically
and hematologically normal. This potentially suggested a dominant
inheritance of disease phenotype from mother to the proband. This was
another HS indicator, as HS patients with severe symptoms often get
better after a splenectomy. The family tree is shown in Figure 1A, and
the laboratory tests are summarized in Table 1.