Table 1. Clinical and laboratory data for the two families.

		Family of patient JKa					Family of patient GH
		II 3	II 4	II 5	III 1	III 2	I 1c	I 2	II 1	II 2
Identity		Father	Mother	Uncle	Proband	Cousin	Father	Mother	Proband	Brother
Age in years	29	30	29	5	4		54	53	12	17
Number of transfusions	−	−	−	<1	−		−	−	4	−
Reference values
Hematologic parameters
Hb, g/l	120–150	141	170	191	79	145	144	159	97d	147
MCV, fl	80–98	82.1	85.2	88.2	72.4	81.6	87.7	88.7	72.4	80.5
MCH, pg	27–32	28.3	30.4	32.5	24.9	29.7	32.9	31.5	25.1	28.3
MCHC, g/l	320–360	332	318	325	293	364	314	335	303	323
Ret, × 109	25–75	30	50	89	170	39	37.1	64.6	147	56.2
Splenomegaly
Splenomegaly	4~6 (age, years): 6.9~8.8 cm12~15 (age, years): 8.7~11.4 cm				10.7				16.7
Hb analysis
Hb F, %	<1.5	1.8	1.8	1.8	26.6	2.0	1.9	1.8	33.2	1.8
Hb A2, %	2.5–3.5	3.3	3.3	3.3	4.8	3.4	2.9	3.5	3.9	3.2
Hb Bart's, %	0	0	0	0	2	0	0	0	1	0
Biochemical data
Bilirubin total, μmol/l	3.4–17.1	9.2	5	8.9	60.8	4.3	16.2	17.8	34.3	11.7
Serum ferritin, ng/ml	10–200	332	15.7	291	396	21.7	241.4	49.8	>2000	111.3
Erythrocytes
Zinc protoporphyrin, μmol/l	<1.20	1.17	0.92	0.58	5.51	0.69	1.42	1.48	11.66	1.21
InLu phenotype	−	+	+	+	+	+	+	+	+	+
CD44 deficiency	−	±	±	±	+	±	±	±	+	±
Abnormality of erythroblast
poikilocyte					+		−		+
heterochromatin clumps	−				35%		−		55%
Globin expression
α/β	0.96±0.05 (95%CI:0.94–0.98)b	0.9	0.96	0.92	1.28	0.98	0.96	1.1	1.17	1.02
α/β+γ	0.96±0.05 (95%CI:0.94–0.98)b	0.9	0.96	0.92	0.62	0.98	0.96	1.1	0.68	1.02

+ and − indicate positive and negative phenotypes described in rows, ± indicates the expression is lower than normal individuals.

^aFour family members in family A without KLF1 mutation had normal hematologic parameters with Hb F between 1.3% and 1.7%.

^bThirty healthy individuals were analyzed and used as normal control.

^cUltrastructural analysis shows normal erythropoiesis and served as a control.

^dIn order to maintain Hb level of 90 g/l to sustain the growth and development, regular transfusion was given after diagnosis at the age of 6 months.