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Table 6 Hematological parameters of the 5 heterozygous cocarriers of the β-globin gene mutation and the α-globin gene triplication

From: Prevalence and clinical phenotype of the triplicated α-globin genes and its ethnic and geographical distribution in Guizhou of China

Subject ID Mut-01 Mut-02 Mut-03 Mut-04 Mut-05
β-gene defects Cds 41/42 (-TTCT) beta0 Cds 71/72 (+ A) beta0 IV-II-654 (C > T) beta+ Cds 41/42 (-TTCT) beta0 Cd17 (AAG > TAG) beta0
α genotypes αα/ααα4.2 αα/ααα3.7 αα/ααα3.7 αα/ααα4.2 αα/ααα4.2
Anemia severe mild mild mild no
Sex M M M M F
Age (years) 14 5 7 7 19
HGB (g/L) 59 80 85 78 134
MCV (fL) 58 68 73 59.6 97.5
MCH 17 25 24 18.5 30.9
HbA 97.7 90 91.9 97.5
HbA2 4.3 3.7 5.8 2.5
HbF 2.3
Hepato-splenomegaly Splenomegaly Splenomegaly
Transfusion Y N N N N
Treatment and prognosis b a a c a
  1. Cd, codon; M, male; F, female; Y, yes; N, no; a, no treatment and occasional follow-up; b, transfusion treatment (HGB < 80 g/L, transfused with washed red blood cells) and regular follow-up; c, transfusion treatment (HGB < 80 g/L, transfused with washed red blood cells) and occasional follow-up