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.