Abstract
The current work focuses on two rare hemoglobin (Hb) variants - Hb Grange-Blanche and Hb Hofu - found for the first time in association with α-thalassemia in Eastern India. The unusual case of Hb Grange-Blanche and FS 41/42(-CTTT) mutations in cis throws light on importance of multiple mutations and its coinheritance with αααanti3.7 triplication indicates a possible cause for the clinical severity in β-thalassemia carriers.
Highlights
Complete hemogram was performed by automated cell counter (Sysmex XT-2000i; Sysmex Corp., Kobe, Japan) and high-pressure liquid chromatography (HPLC) was carried out by (Biorad Variant-II b-thalassemia Short Program; Bio-Rad Lab., Hercules, CA; USA)
Genomic DNA was measured by NanoDrop 1000 (Thermo Scientific, Wilmington, DE, USA). α-thalassemia mutation was investigated using single tube multiplex PCR method.[9,10]
Grange-Blanche in two separate cases. b-thalassemia intermedia is a condition observed in patients showing intermediate mutational analysis
Summary
Dipanwita Das,[1] Nandini Chattopadhyay,[1] Arghya Mukherjee,[2] Dhrubajyoti Chattopadhyay,[2] Prantar Chakrabarti,[1] Utpal Chaudhuri,[1] common ARMS-PCR method. Abstract ly The current work focuses on two rare hemon globin (Hb) variants - Hb Grange-Blanche and o Hb Hofu - found for the first time in association with α-thalassemia in Eastern India. -c detected by routine methods like amplification refractory mutation system-polymerase chain n reaction (ARMS-PCR), rare and new mutao tions are reported by b-globin gene sequencN ing. We obtained a single unique case of Hb Hofu, in combination with α -thalassemia from a random cross-section of eastern Indian population. Sequencing studies of patients with bthalassemia intermedia revealed a very interesting case, in which two members from a family had simultaneous inheritance of two cis b-globin mutations with α triplication
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