HbH disease with Poly A; AATAAA->AATA-

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HbH disease with Poly A; AATAAA->AATA- - deletion

#00061672

Author: Reena Das; Prashant Sharma
Category: Red Cell: Hemoglobin disorder > Quantitative disorders (thalassemias) > Alpha-thalassemia > HbH disease (-a/--)
Published Date: 07/11/2018

A 10 years male presented with mild pallor and hepatosplenomegaly. Hemoglobin HPLC was performed to exclude thalassemia syndrome.

Figure: A. HPLC showed twin preintegration peaks which suggested HbH disease; B. HbH preparation showed many golf ball inclusions; C. Shows a normal alpha globin sequencing at the polyadenylation site; D. Shows homozygous polyadenylation signal deletion of two base pairs leading to Poly A; AATAAA->AATA- - of the alpha2 gene (HBA2:c.*93_*94delAA)

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