Hemolysis

Hemolysis

Background: For many years, children heterozygous for glucose-6-phosphate dehydrogenase (G-6-PD) deficiency were not considered to be at risk for the comlications of this enzyme deficiency. Severe hyperbilirubinemia caused by hemolysis was described in 2 premature infants heterozygous for the G-6-PD Mediterranean mutation.

Case Report: Both infants were premature girls born to Sephardic Jewish immigrants. Both were heterozygotes for the G-6-PD Mediterranean mutation, determined by DNA analysis. In the first infant, no problems were evident until the eighth day of life, when she became visibly jaundiced. Her serum bilirubin value was 272 mol/L. Despite intense phototherapy, the serum total bilirubin (STB) value rose to 360 mol/L. A double-volume whole blood exchange transfusion was then performed. After the exchange, the STB value was 200 mol/L, and it declined gradually with further phototherapy. Neurologic findings were normal before the exchange transfusion and again before hospital discharge.

The second infant had normal G-6-PD screening test shortly after delivery. At 4 days of age, she was discharged, feeding well and apparently healthy. At 9 days, she was brought to the hospital be-cause her skin had become deep yellow. Her STB value was 513 mol/L, and mild respiratory distress necessitated oxygen therapy. A double-volume whole blood exchange eas done, and the STB level declined to 313 mol/L. Phototherapy reduced this value further. The oxygen requirement also declined in the next 3 days. When the infant was 12 days old, seizure activity, including eye rolling, occurred. Electroencephalography demonstrated an epileptic focus in the left parietal area. With phenobarbital treatment, the seizures did not recur.

Conclusions: These infants, heterozygous for the G-6-PD Mediterranean mutation, had severe hyperbilirubinemia caused by hemolysis. Thus, G-6-PD-deficient heterozygotes may be susceptible to the complications of this deficiency.