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MUTATION | |
Initiation codon (A->G); ATG->GTG of the alpha1 gene | |
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AMINO ACID REPLACEMENT | |
None | |
TYPE OF ALPHA-THAL | |
alpha-Thal-2 [alphaalpha(T)/alphaalpha] | |
MECHANISM | |
The mutation abolishes the function of the alpha1-globin gene | |
IDENTIFICATION | |
Gene mapping; cloning; sequencing | |
HEMATOLOGY IN HETEROZYGOTE(S) | |
alphaalpha(T)/alphaalpha: Hb 11.3-14.2 g/dl; MCV 75-77 fl; MCH 24-28 pg; Hb A2 2.8-3.0% | |
HEMATOLOGY IN HOMOZYGOTE(S) | |
None | |
OCCURRENCE | |
In a few Sardinian families | |
HAPLOTYPE | |
Not determined | |
FOUND IN COMBINATION WITH ABNORMAL HB(S) | |
Not reported | |
FOUND IN COMBINATION | |
With an alpha-thal-1 (- -/) in a few patients with Hb H disease [- -/alphaalpha(T)]: Hb 9.5, 10.1 g/dl; MCV 52, 49 fl; MCH 16, 15 pg; Hb A2 1.4, 1.6%; Hb H not determined; inclusion bodies in 60-140 RBCs/1000 RBCs | |
OTHER INFORMATION | |
The two patients were 10 and 12 years old; pallor and anemia; spleen was barely palpable; liver slightly en-larged; no acute hemolytic crises; mild Hb H disease | |