Severe α-Thalassemia Intermedia Due to a Compound Heterozygosity for the Highly Unstable Hb Adana (HBA2: c.179G>A) and a Novel Codon 24 (HBA2: c.75T>A) Mutation

Figures & data

Figure 1. Pedigree of the family. The codon 59 (HBA2: c.179G > A) mutation was found in the mother (I-1), the second child (II-2) and the fetus (II-3), whereas the novel codon 24 (HBA2: c.75T > A) mutation was carried by the father (I-2) and in compound heterozygosity by the second child (II-2).

Figure 2. Sequencing result of the α2-globin gene in the father showing heterozygosity for codon 24 (HBA2: c.75T > A).

Table 1. Summary of the Hematological Profile and Molecular Findings of the Family.

Parameters	I-2	I-1^a	II-2^b
Sex-age	M-37	F-36	M-7
Hb (g/dL)	15.5	11.8	10.0
RBC (10^12/L)	5.55	5.04	4.15
MCV (fL)	77.2	68.8	69.2
MCH (pg)	27.3	23.4	24.1
MCHC (g/dL)	35.4	34.0	34.8
RDW (%)	13.7	14.4	32.0
Hb A2 (%)	2.5	2.8	2.6
Hb F (%)	0.9	0.3	1.6
α Genotype	α^codon 24α/αα	α^codon 59α/αα	α^codon 24α/α^codon 59α

^aMother was 23 weeks pregnant at the time of the study.

^bThe hematological parameters of the affected child (II-2) are post transfusion.