Identification of high oxygen affinity hemoglobin (Hb Andrew‐Minneapolis) in an Indian family

Hemoglobin Andrew‐Minneapolis‐Bijnor HBB:c.[413T>C;435G>C] in a complex genotype with β‐thalassemia trait: A diagnostic and management conundrum

“…Hb Andrew-Minneapolis is a high oxygen-binding hemoglobin (Hb) variant first described by Zak et al (1974) and has been reported in approximately 11 families, causing mild-to-moderate erythrocytosis. [2][3][4][5][6][7][8][9][10][11] This variant has also been reported with δβ-thalassemia in one case. 8 The diagnosis is often straightforward, based on screening by Hb-HPLC and/or Hb electrophoresis followed by confirmation by Sanger sequencing of the β-globin gene (HBB).…”

“…Reticulocytosis has been reported in a few reports of Hb Andrew-Minneapolis, 2,6,7 along with instability. 10 In our case too, tests for unstable Hb were positive. Neither the index case nor his father had ever undergone phlebotomies.…”

“…8 To the best of our knowledge, none of the previously reported cases of Hb Andrew-Minneapolis had documented hepatosplenomegaly. [2][3][4][5][6][7][8][9][10][11] In light of the splenohepatomegaly, unconjugated hyperbilirubinemia, and mild reticulocytosis, the co-inherited novel missense cis-variant HBB: c.413T>C (p. Val138Ala) [β137] was evaluated further. In-silico analysis using PolyPhen, SIFT, PROVEAN, MutPred, MutationTaster, CADD, M-CAPP, etc.…”

Wide spectrum of novel and rare hemoglobin variants in the multi‐ethnic Indian population: A review

“…On family screening three more members of the family were also carriers. Homozygous Hb Andrew Minneapolis [β Codon 144 (G→T)] (HBB:c.435G>T) was identified in a 40‐year‐old female from Pondicherry 34 . She had erythrocytosis with an elevated serum erythropoietin level (305 mIU/mL) and reduced p50 level (12.31) which indicated that the patient was having secondary erythrocytosis due to the presence of a high oxygen affinity Hb.…”

“…Apart from India, Hb J Meerut was reported from Bangladesh, Japan and Turkey 1 while Hb J Norfolk was seen in English, Italian, Japanese and Nepali families 1 . High oxygen affinity Hb variants such as Hb Jackson, Hb Andrew Minneapolis, Hb Mckees Rocks, Hb Rainier and Hb Olympia were also reported from India 7,34,37,40,59 . Individuals with these variants presented with erythrocytosis.…”