title: Clinical and molecular characterization of Hb Hofu in eastern India.
abstract: BACKGROUND
  Hb Hofu (HBB:c. 380T>A) is a rare inherited hemoglobin abnormality with few case reports in the world literature.
  
  
  METHODS
  Screening for the sickle cell gene mutation and other hemoglobinopathies was carried out using the sickle slide test, Hb electrophoresis, and HPLC under an ongoing central government project.
  
  
  RESULTS
  We detected twelve Hb Hofu heterozygotes and three sickle Hb Hofu compound heterozygotes. The heterozygotes were asymptomatic except for one individual who had chronic kidney disease and moderate anemia. Only one HbS-Hofu case was symptomatic and presented with intermittent attacks of painful crisis. In the carrier state, the Hb Hofu eluted as a hump at the beginning of the HbA(0) window. But in HbS-Hofu cases, Hb Hofu eluted as a single peak in the HbA(0) window, with the HbA(2) levels being >4% consistently.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Veer Surendra Sai Medical College, Burla, Sambalpur, Odisha, India.
authors.forename: P
authors.initials: P
authors.lastname: Purohit
authors.affiliation: Veer Surendra Sai Medical College, Burla, Sambalpur, Odisha, India.|Indian Council for Medical Research, New Delhi, India.
authors.forename: R S
authors.initials: RS
authors.lastname: Mashon
authors.affiliation: Department of Obstetrics and Gynecology, Veer Surendra Sai Medical College, Burla, Sambalpur, Odisha.
authors.forename: S
authors.initials: S
authors.lastname: Patel
authors.affiliation: Veer Surendra Sai Medical College, Burla, Sambalpur, Odisha, India.
authors.forename: S
authors.initials: S
authors.lastname: Dehury
authors.affiliation: Odisha Sickle cell Project, Veer Surendra Sai Medical College, Burla, Sambalpur, Odisha, India.
authors.forename: C
authors.initials: C
authors.lastname: Pattanayak
authors.affiliation: Odisha Sickle cell Project, Veer Surendra Sai Medical College, Burla, Sambalpur, Odisha, India.
authors.forename: K
authors.initials: K
authors.lastname: Das
authors.affiliation: Department of Haematogenetics, National Institute of Immunohaematology(ICMR), KEM Hospital Campus, Parel, Mumbai, Maharashtra, India.
authors.forename: S
authors.initials: S
authors.lastname: Nair
authors.affiliation: Department of Haematogenetics, National Institute of Immunohaematology(ICMR), KEM Hospital Campus, Parel, Mumbai, Maharashtra, India.
authors.forename: K
authors.initials: K
authors.lastname: Italia
authors.affiliation: Department of Medicine, M.K.C.G. Medical College, Berhampur, Odisha, India.
authors.forename: S
authors.initials: S
authors.lastname: Bag
authors.affiliation: Department of Haematogenetics, National Institute of Immunohaematology(ICMR), KEM Hospital Campus, Parel, Mumbai, Maharashtra, India.
authors.forename: R
authors.initials: R
authors.lastname: Colah
authors.affiliation: Odisha Sickle cell Project, Veer Surendra Sai Medical College, Burla, Sambalpur, Odisha, India.|Department of Medicine, Veer Surendra Sai Medical College, Burla, Sambalpur, Odisha, India.
authors.forename: D K
authors.initials: DK
authors.lastname: Patel
mesh_terms: D000328:Adult; D000755:Anemia, Sickle Cell / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D058070:Asymptomatic Diseases; D002648:Child; D002851:Chromatography, High Pressure Liquid; D005260:Female; D015870:Gene Expression; D006443:Hemoglobin A2 / Q000235:genetics / Q000302:isolation & purification; D006453:Hemoglobinopathies / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000302:isolation & purification; D006579:Heterozygote; D006801:Humans; D007194:India; D008297:Male; D009154:Mutation; D010375:Pedigree; D055544:beta-Globins / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055544:beta-Globins; D006443:Hemoglobin A2; C028908:hemoglobin Hofu
keywords: HPLC; Hb Hofu; eastern India; retention time; sickle cell anemia