Potential use of cord blood for Hb E hemoglobinopathy screening programme using capillary electrophoresis.

BACKGROUND: Thalassemia and hemoglobinopathies are inherited red blood cell disorders found worldwide. Hemoglobin (Hb) E disorder is one of the hemoglobinopathies known to have the high prevalence in South East Asia. Most of transfusion-dependent thalassemias were genotypically compound heterozygous Hb E/ ß-thalassemia. In Malaysia, the national screening program for thalassemia was implemented for early pregnancy or secondary school girls; however many participants do not turn-up and missed the screening test. Screening for thalassemia using samples from cord blood is an alternative choice as it is a readily available source of blood and hence early detection of the disease. The purpose of this study was to determine the potential use of cord blood for the screening of HbE hemoglobinopathy by using capillary electrophoresis (CE). METHODS: Cord blood samples were collected from 300 newborns of healthy mothers. Hematological parameters were determined and hemoglobin quantitation for all cord blood samples were performed using capillary electrophoresis system (CES) and high performance liquid chromatography (HPLC). RESULTS: Majority of cord blood samples (63%) revealed Hb AF followed by Hb AFA2 (20%). Hb AFE was detected in 10.7% with the mean value of Hb E ranging from 2.3%-11.1%. CONCLUSION: Hemoglobin E was detected in cord blood using capillary electrophoresis system. It can be recommended in areas where Hb E/ß is prevalent. Implementation of a screening strategy using CE on cord blood sampling will identify the disease early. With regular follow-up on these patients, the status of their disease can be determined earlier and appropriate management implemented.

Twin reverse arterial perfusion sequence.

Twin reverse arterial perfusion sequence occurs in approximately one percent of monochorionic twins. This condition is always fatal for the recipient twin and carries a high mortality rate for the pump twin. Various treatment options are described, but management is continually evolving with the publication of new data. We report an acardiac acephalic monochorionic twin who was diagnosed at 31 weeks gestation. Serial ultrasonographical examinations of the normal pump twin showed intrauterine growth restriction but with no evidence of heart failure. A healthy pump twin was delivered by caesarean section at 34 weeks.