Table 1. Hematology, hemoglobin, and DNA... | American Society of Hematology

Table 1.

Hematology, hemoglobin, and DNA analysis in families H and G

Pedigree designation	Hb, g/dL	PCV, %	MCV, fl	MCH, pg	MCHC, g/dL	Hb F, %	Hb A₂, %	α Genes	β Genes	α/β + γ Chain synthesis^*	α/β mRNA†	*^Gγ Xmn-1*	UGT1A1 promoter
Family H
I-1	7.6	16.9	56.1	19.2	34.2	1.1	5.2	αααα/αα	β^T/β^N	NS	8.8	–/–	NS
I-2	10.8	22.4	56.8	22.1	38.9	1.3	4.5	αααα/αα	β^T/β^N	NS	6.8	–/–	NS
II-1 (P)	6.7	13.8	48.3	20.7	35.6	4.6	4.3	αααα/αααα	β^T/β^N	3.2	18.1	–/–	NS
Family G
I-1	10.8	27.5	80.9	31.9	39.5	0.6	2.9	ααα/αα	β/β	NS	NS	–/–	6/7
I-2	7.4	21.1	61.7	21.8	35.4	1.9	5.0	ααα/αα	β^T/β	NS	NS	+/–	7/7
II-1 (P)	6.8	14.8	72.8	23.9	32.8	2.0	4.2	ααα/ααα	β^T/β	2.7	7.7	–/–	7/7
II-2	11.4	29.1	82.7	32.5	39.3	0.6	2.9	ααα/ααα	β/β	NS	NS	+/–	7/7
II-3	9.8	25.3	73.1	28.6	39.1	0.0	2.9	αα/αα	β/β	NS	NS	+/–	7/7
II-4	NS	NS	NS	NS	NS	1.1	5.4	ααα/αα	β^T/β	NS	6.9	–/–	6/7

Pedigree designation	Hb, g/dL	PCV, %	MCV, fl	MCH, pg	MCHC, g/dL	Hb F, %	Hb A₂, %	α Genes	β Genes	α/β + γ Chain synthesis^*	α/β mRNA†	*^Gγ Xmn-1*	UGT1A1 promoter
Family H
I-1	7.6	16.9	56.1	19.2	34.2	1.1	5.2	αααα/αα	β^T/β^N	NS	8.8	–/–	NS
I-2	10.8	22.4	56.8	22.1	38.9	1.3	4.5	αααα/αα	β^T/β^N	NS	6.8	–/–	NS
II-1 (P)	6.7	13.8	48.3	20.7	35.6	4.6	4.3	αααα/αααα	β^T/β^N	3.2	18.1	–/–	NS
Family G
I-1	10.8	27.5	80.9	31.9	39.5	0.6	2.9	ααα/αα	β/β	NS	NS	–/–	6/7
I-2	7.4	21.1	61.7	21.8	35.4	1.9	5.0	ααα/αα	β^T/β	NS	NS	+/–	7/7
II-1 (P)	6.8	14.8	72.8	23.9	32.8	2.0	4.2	ααα/ααα	β^T/β	2.7	7.7	–/–	7/7
II-2	11.4	29.1	82.7	32.5	39.3	0.6	2.9	ααα/ααα	β/β	NS	NS	+/–	7/7
II-3	9.8	25.3	73.1	28.6	39.1	0.0	2.9	αα/αα	β/β	NS	NS	+/–	7/7
II-4	NS	NS	NS	NS	NS	1.1	5.4	ααα/αα	β^T/β	NS	6.9	–/–	6/7

PCV indicates packed cell volume; MCV, mean cell volume; MCH, mean cell hemoglobin; MCHC, mean cell hemoglobin concentration; NS, indicates not studied; P, propositus.

Normal range, 0.9-1.1; β thalassemia trait range, 1.8-2.2

†

Normal range, 1.8-4.4

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