A second case of Hb Fontainebleau [alpha21(B2)Ala-->Pro] in an individual with microcytosis.
The identification of a second case of Hb Fontainbleau [alpha21(B2)Ala-->Pro] allowed us to re-examine its association with microcytosis, explore the effects of the mutation on protein stability and define the mutation at a DNA level. Although slightly unstable, the variant was expressed at 28-29% of the total and was caused by a heterozygous mutation in the alpha2 gene. There was no evidence for concomitant alpha-thalassemia (alpha-thal); both alpha-globin gene deletion analysis and sequencing of the alpha-globin locus failed to detect any additional mutations that might explain the relatively high expression level.
Brennan
Stephen O
SO
Molecular Pathology Laboratory, University of Otago, Christchurch, New Zealand. steve.brennan@otago.ac.nz
Chan
Tim
T
Ryken
Sheila
S
Ruskova
Anna
A
D000328:Adult; D000409:Alanine / Q000235:genetics; D019943:Amino Acid Substitution; D000740:Anemia / Q000097:blood* / Q000235:genetics*; D004909:Erythrocyte Indices; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006801:Humans; D008297:Male; D011392:Proline / Q000235:genetics; D021241:Spectrometry, Mass, Electrospray Ionization
D006455:Hemoglobins, Abnormal; C062066:hemoglobin Fontainebleau; D011392:Proline; D000409:Alanine