Patcharee Komvilaisak

Abstract Hemoglobin H (Hb H) disease is a prevalent hereditary hemolytic anemia worldwide. Clinical severity varies by genotype, particularly between deletional and non-deletional forms, as well as the presence of co-inherited Hb E. However, disease-related complications remain underreported. We analyzed a Thai multicenter registry of 1,298 patients with Hb H disease to evaluate disease-related complications and risk factors.

Abstract Neonatal jaundice is most commonly caused by blood group incompatibility but may also result from hereditary elliptocytosis (HE) associated with heterozygous SPTB mutations. A retrospective descriptive study was conducted among 1,584 neonates presenting with jaundice over a 3-year period. Seventy-six neonates (4.8%) were diagnosed with HE, all carrying heterozygous SPTB mutations (Providence variant, n = 67; Buffalo variant, n = 9). Five had coexisting hemoglobinopathies.

1 Background Central nervous system (CNS) haemorrhage might be seen in congenital bleeding disorders such as haemophilia [1, 2], hypofibrinogenemia, clotting Factor VII, X and XIII deficiency, resulting in devastating morbidity and mortality. This life-threatening condition requires early detection and clotting factor concentrate treatment to control ongoing bleeding, followed by surgical intervention when indicated as in patients without haemostatic abnormalities.