Hb Marineo [beta70(E14)Ala-->Val]: a silent hemoglobin variant with a mutation within the heme pocket.
We report a new hemoglobin (Hb) variant, Hb Marineo [beta70(E14)Ala --> Val], found in three generations of a family from West Sicily. The mutation is due to a GCC --> GTC substitution at codon 70 of the beta-globin gene. To date, three mutations at codon 70 of the beta-globin gene have been described, presenting with hemolytic anemia. In our case, no anemia or other alteration of hematological indices were found. Cation exchange high performance liquid chromatography (HPLC) showed a peak in the P2 window (VARIANT I), while a peak was detected by VARIANT II HPLC in the P3 window. Reversed phase HPLC analysis showed an abnormal chain amounting to about 40% of the total beta chains.
Giambona
Antonino
A
Azienda Ospedaliera Vincenzo Cervello, UO Ematologia II, Palermo, Italy. giambic@libero.it
Vinciguerra
Margherita
M
Cassarà
Filippo
F
Li Muli
Rita
R
Leto
Filippo
F
Passarello
Cristina
C
Wajcman
Henri
H
Maggio
Aurelio
A
D000328:Adult; D019943:Amino Acid Substitution; D002851:Chromatography, High Pressure Liquid; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005914:Globins / Q000737:chemistry / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008297:Male; D008958:Models, Molecular; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D011487:Protein Conformation; D017422:Sequence Analysis, DNA; D012802:Sicily
D003062:Codon; D006455:Hemoglobins, Abnormal; C512700:hemoglobin Marineo; D005914:Globins