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Table 1 Common types of beta-thalassemia: severity and ethnic distribution.

From: Beta-thalassemia

Population

β-gene mutation

Severity

Indian

-619 del

β0

Mediterranean

-101 C→T

β++

Black

-88 C→T

β++

Mediterranean; African

-87 C→G

β++

Japanese

-31 A→G

β++

African

-29 A→G

β++

Southeast Asian

-28 A→C

β++

Mediterranean; Asian Indian

IVS1-nt1 G→A

β0

East Asian; Asian Indian

IVS1-nt5 G→C

β0

Mediterranean

IVS1-nt6 T→C

β+/++

Mediterranean

IVS1-nt110 G→A

β+

Chinese

IVS2-nt654 C→T

β+

Mediterranean

IVS2-nt745 C→G

β+

Mediterranean

codon 39 C→T

β0

Mediterranean

codon 5 -CT

β0

Mediterranean; African-American

codon 6 -A

β0

Southeast Asian

codon 41/42 -TTCT

β0

African-American

AATAAA to AACAAA

β++

Mediterranean

AATAAA to AATGAA

β++

Mediterranean

codon 27 G→T Hb (Hb Knossos)

β++

Southeast Asian

codon 79 G>A (Hb E)

β++

Malaysia

Codon 19 G>A (Hb Malay)

 
  1. β0:complete absence of beta globin on the affected allele
  2. β+:residual production of beta globin (around 10%)
  3. β++:very mild reduction in beta globin production