Hb Olivet (HBA1: C.40G > A; p.Ala14Thr), a Novel Silent Hemoglobin Variant in Two Families of Distinct Origin

Figures & data

Figure 1. Pedigrees of the Surinamese family living in The Netherlands (family A) and the French-Portuguese family living in France (family B). The proband in each family is indicated by an arrow.

Figure 2. (a) Capillary electrophoresis (Sebia) pattern of the Hb Olivet carrier (left) and a normal control (right), no abnormal pattern was observed. (b) High performance liquid chromatography (VARIANT II™; Bio-Rad Laboratories) result of the Hb Olivet carrier showed an atypical pattern with the abnormal Hb fraction partially overlapping the Hb A fraction. The normal pattern is indicated as dashed lines overlaying the Hb Olivet pattern on the left.

Table 1. Hematological, biochemical parameters and DNA results of the two families with Hb Olivet.

	Family A				Family B
Parameters	A 1-1	A II-1^a	A II-2	A II-3	B I-1	B II-1^a	Reference Range
Sex-age	F-33	F-6	F-5	M-5	F-57	M-24
Hb (g/dL)	11.1	13.4	12.1	14.0	14.7	14.6	M: 13.0–18.0 F: 12.0–16.0
PCV (L/L)	0.36	0.39	0.36	0.41	0.41	0.42	M: 0.40–0.54 F: 0.37–0.47
RBC (10^12/L)	5.24	4.89	4.60	4.99	4.99	5.24	M: 4.60–6.20 F: 4.20–5.40
MCV (fL)	69.0	80.0	78.0	83.0	83.0	75.0	80.0–96.0
MCH (pg)	21.3	27.3	26.2	28.0	29.5	27.5	27.4–33.8
Ferritin (μg)	3.0	23.0	23.0	ND	ND	ND	M: 69.0 F: 35.0
ZPP (μmol/mol)	47.0	94.0	102.0	75.0	ND	ND	<100.0
HPLC	abnormal	abnormal	normal	normal	abnormal	abnormal
Hb Olivet	[+]	[+]	[–]	[–]	[+]	[+]

Hb: hemoglobin; PCV: packed cell volume; RBC: red blood cell count; MCV: mean corpuscular volume; MCH: mean corpuscular Hb; ND: not determined; ZPP: zinc protoporphyrin; HPLC: high performance liquid chromatography.

^a Proband(s).