Dutch-beta thalassemia: A rare mutation from India

Abstract

Background: The Dutch I β°- Thalassemia is caused by 12.6 kilo-base (kb) deletion in Hemoglobin subunit beta (HBB) gene causing variable phenotypic presentation depending upon the zygosity of the condition. Case characteristics: An 8 year old female child presented with pallor, icterus and splenomegaly without any previous history of blood transfusion. She was evaluated for the evidence of hemoglobinopathy and was found to have very high HbF and absent HbA levels on High performance liquid chromatography (HPLC). The gene mutation analysis suggested the child to have a rather scarce pathogenic large deletion in HBB gene which has never been reported from India. Message: As this pathogenic variant has been rarely reported and discussed in literature, we hereby present the clinical characteristics associated with it, as demonstrated in our patient. © 2022 Pediatric Hematology Oncology Chapter of Indian Academy of Pediatrics