A novel mutation Hb jiangnan[β3(NA3) Leu→Lys, HBB:c.10­_11delinsAA] causing elevated Hb A₂ level

Figures & data

Table 1. The hematological and molecular data of the family.

Parameters	Proband	wife	baby
Sex/age (years)	M/19	F/21	F/1(day)
Hb (g/L)	139	97	166
MCV (fL)	87.4	76.8	107.6
MCH (pg)	28.7	25.3	35.9
CE
Hb A (%)	64.5	N	9.9
Hb A2 (%)	3.7	N	0.1
Hb Hb F + Jiangnan (%)	31.8	N	90.0
Hb F (%)	0	N	0
HPLC
Hb A0 (%)	57.0	69.6	N
Hb A2 (%)	4.5	0	N
Hb Jiangnan (%)	31.2	0	N
Hb A2 + Hb E (%)	0	29.9	N
Hb F (%)	0.6	0.5	N
α-globin gene	αα/αα	αα/αα	αα/αα
β-globin gene	β^CD3M/β^N	β^CD26M/β^N	β^CD3M/β^N

N: No data.

Figure 1. Hb analysis of the proband with Hb Jiangnan by HPLC and CE. HPLC showed an abnormal peak at retention time 4.49 min(A). CE demonstrated a high Hb X level (31.8%) in the Hb F Zone which were actually the sum of Hb X + Hb F(B).

Figure 2. Hb analysis of the proband's wife using HPLC and his baby using CE. HPLC presented a Hb E co-eluted with Hb A₂ at retention time 3.67 min in the proband’s wife (A). CE revealed normal results in his baby and there should be a small amount of Hb Jiangnan and Hb F that failed to separate (B).

Figure 3. The results of the proband's wife showed the Hb E heterozygotes by PCR-RDB. No mutations were detected in the proband (A) but a Hb E heterozygote (arrow) was detected from the proband's wife (B).

Figure 4. DNA sequencing of the proband (A) and his baby (B). They revealed a heterozygous CTG>AAG mutation at codon 3 of the β-globin gene (arrow).