Clinical and molecular characterization of Hb Hofu in eastern India

Abstract

HbS-Hofu has a variable clinical presentation. The retention time of Hb Hofu on HPLC is very close to that of HbA(0) and often elutes in the A0 window. Thus, there is every possibility of the HbS-Hofu chromatogram to be misinterpreted as that of a sickle cell trait/transfused sickle cell-beta-thalassemia case. This is the first time where Hb Hofu has been detected by HPLC, which is the widely accepted screening technique for hemoglobinopathies around the world.

Compound heterozygous state of β-thalassemia with IVS1-5 (G→C) mutation and Indian deletion-inversion Gγ(Aγδβ)0-thalassemia in eastern India

“… 3 Recently we reported that the carrier frequency of the β-thalassemia gene with the IVS1-5 (G→C) mutation in western districts of Odisha, India is 3.75%. 4,5 In India, the IVS1-5 (G→C) mutation is the most common β-thalassemia mutation. However, the IVS1-5 (G→C) mutation along with other mutations, including IVS1-1 (G→T), Cd41/42 (-TCTT), Cd 8/9 and a 619 base pair deletion, accounts for >90% of mutations causing β-thalassemia.…”

Influence of Sickle Cell Gene on the Allelic Diversity at the MSP-1 Locus of Plasmodium Falciparum in Adult Patients With Severe Malaria

“…This hospital caters the population residing in the western part of Odisha state and the eastern part of Chhattisgarh state. This region has low perennial transmission of malaria with a high frequency of sickle cell gene (21%) 10 and alpha thalassemia (51%). 12 The state of Odisha contributes to 23% of positive malaria cases, 50% of P. falciparum cases and 15% of malaria-related deaths in India.…”

“…The frequency of sickle cell gene in the study population is 21%. 10 In a hospital-based study in our institution, we have reported that severe malaria is the second most common cause of death in HbSS subjects. 11…”

Mortality Risk Factors in Hospitalised Late Adolescent and Adult Sickle Cell Disease Patients

“…High prevalence of sickle cell haemoglobinopathy is seen in western Odisha ranging from 5 to 30%. [11][12][13][14][15][16][17] Veer Surendra Sai Institute of Medical Sciences and Research situated in Burla, Sambalpur, Odisha, caters treatment to majority of complicated cases and houses the nodal centre of Odisha Sickle Cell Project sponsored by National Health Mission, Government of Odisha, India, with state of art molecular biology laboratory. Presently, cases of sickle cell disease and trait registered at the nodal centre exceeds 16,000 and 19,000, respectively.…”