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Table 4 Distribution of beta thal alleles in beta thal int and thal major patients.

From: Factors regulating Hb F synthesis in thalassemic diseases

Type of thalassemic disease N. cases n. of identified alleles Alleles beta thal silent Alleles beta+ thal mild Alleles beta+ thal severe and beta ° thal
Sub-silent thal int 33 61 22 (37%) 8 (13%) 31 (50%)
Evident thal int 41 81 9 (12%) 36 (44%) 36 (44%)
beta thal int in double heterozygous beta thal + triplicated alpha 58 100 0 0 100 (100%)
Thal major 24 47 1 (2.1%) 7 (15%) 39 (83%)
  1. The silent, mild, severe beta-thal defects present in Italy are: 1. Silent: -101 C→T; -92 C→T; IVS II-844 C→G; triplicated alphaanti 3.7; triplicated alphaanti 4.2: ; they have a hematologic-hemoglobinic picture completely normal or with some mild thal characters. 2. mild or sub-silent: -87 C→G or C→T; -86 C→G or C→A; IVS-1 6 T→C that have a constant but very mild thal hematologic picture and a mild increase of Hb A2. 3. severe: beta°39 C→T; IVS 1–110 G→A; IVS II-745 C→G; frameshift 6 (-A) that have all very marked hematologic and hemoglobinic characters.