J Clin Med Res

Journal of Clinical Medicine Research, ISSN 1918-3003 print, 1918-3011 online, Open Access

Article copyright, the authors; Journal compilation copyright, J Clin Med Res and Elmer Press Inc

Journal website http://www.jocmr.org

Original Article

Volume 11, Number 6, June 2019, pages 422-427

Polycythemia in Patients With Hereditary Hemochromatosis: Real or Myth?

**Table 1.** Patient Characteristics (n = 152)
HFE mutation	Number of patients (n)	Men	Women	Median age (years)	Median hemoglobin (g/dL)	Median hematocrit (%)	Median ferritin (ng/mL)	Phlebotomy (n/n)	Active tobacco use	Lung disease	Significant medical conditions
OSA: obstructive sleep apnea; GI: gastrointestinal; COPD: chronic obstructive pulmonary disease; PE: pulmonary embolism; ESRD: end-stage renal disease.
C282Y/C282Y	44	29	15	64	15.5	44.9	502.5	38/44	6/44	OSA = 3	Crohn’s = 1
C282Y/H63D	27	17	10	57.5	15.8	46	294.5	20/27	7/27	OSA = 1	Menorrhagia = 3, GI bleeding = 1
H63D/H63D	10	5	5	62.5	16	47	451	6/10	2/10	None	None
H63D/S65C	1	1	0	35	17.5	49	180	1/1	0/1	None	None
C282Y heterozygous	25	13	12	57	16	47	283	15/25	4/25	OSA = 2	GI bleeding = 1
H63D heterozygous	41	28	13	59	16.6	48	260	19/41	14/41	OSA = 5, COPD = 1, PE = 1	ESRD = 2, folate deficiency = 1
C2A2Y heterozygous	1	1	0	70	15.8	48	568	1/1	0/1	None	None
S65c heterozygous	2	1	1	69	16	47.9	541	2/2	0/2	None	None
Total cohort	152	96	56	60.5	16.1	47	306	102/152	33/152	13/152	9/152

Table 1. Patient Characteristics (n = 152)

HFE mutation

Number of patients (n)

Men

Women

Median age (years)

Median hemoglobin (g/dL)

Median hematocrit (%)

Median ferritin (ng/mL)

Phlebotomy (n/n)

Active tobacco use

Lung disease

Significant medical conditions

OSA: obstructive sleep apnea; GI: gastrointestinal; COPD: chronic obstructive pulmonary disease; PE: pulmonary embolism; ESRD: end-stage renal disease.

C282Y/C282Y

15.5

44.9

502.5

38/44

6/44

OSA = 3

Crohn’s = 1

C282Y/H63D

57.5

15.8

294.5

20/27

7/27

OSA = 1

Menorrhagia = 3, GI bleeding = 1

H63D/H63D

62.5

451

6/10

2/10

None

H63D/S65C

17.5

180

1/1

0/1

None

C282Y heterozygous

283

15/25

4/25

OSA = 2

GI bleeding = 1

H63D heterozygous

16.6

260

19/41

14/41

OSA = 5, COPD = 1, PE = 1

ESRD = 2, folate deficiency = 1

C2A2Y heterozygous

15.8

568

1/1

0/1

None

S65c heterozygous

47.9

541

2/2

0/2

None

Total cohort

152

60.5

16.1

306

102/152

33/152

13/152

9/152

**Table 2.** Comparison of Hemoglobin and Hematocrit Levels Between Men and Women
HFE mutation	Gender	Hemoglobin range (g/dL)	Hematocrit range (%)	Median hemoglobin (g/dL)	Median hematocrit (%)
C282Y/C282Y	Male, female	13 - 19.5, 14 - 16.2	38 - 57, 40 - 46	16.4, 14.4	46, 42
C282Y/H63D	Male, female	13.4 - 18.4, 12.8 - 16.9	40 - 55, 37 - 50	16.4, 15	47, 44.6
H63D/H63D	Male, female	15.5 - 19, 14.1 - 17.7	45 - 55, 42 - 53	16.5, 15	50.1, 45
H63D/S65C	Male	17.5	49	-	-
C282Y heterozygous	Male, female	14.4 - 18.3, 13.3 - 16.4	41 - 55, 39.2 - 56	16.3, 15.1	47, 44
H63D heterozygous	Male, female	13.5 - 19.6, 14 - 19.8	39 - 57, 41 - 56.3	17.1, 15.9	49, 46
C2A2Y heterozygous	Male	15.8	48	-	-
S65c heterozygous	Male, female	15.4, 16.6	44.4, 57.3	-	-

Table 2. Comparison of Hemoglobin and Hematocrit Levels Between Men and Women

HFE mutation

Gender

Hemoglobin range (g/dL)

Hematocrit range (%)

Median hemoglobin (g/dL)

Median hematocrit (%)

C282Y/C282Y

Male, female

13 - 19.5, 14 - 16.2

38 - 57, 40 - 46

16.4, 14.4

46, 42

C282Y/H63D

Male, female

13.4 - 18.4, 12.8 - 16.9

40 - 55, 37 - 50

16.4, 15

47, 44.6

H63D/H63D

Male, female

15.5 - 19, 14.1 - 17.7

45 - 55, 42 - 53

16.5, 15

50.1, 45

H63D/S65C

Male

17.5

C282Y heterozygous

Male, female

14.4 - 18.3, 13.3 - 16.4

41 - 55, 39.2 - 56

16.3, 15.1

47, 44

H63D heterozygous

Male, female

13.5 - 19.6, 14 - 19.8

39 - 57, 41 - 56.3

17.1, 15.9

49, 46

C2A2Y heterozygous

Male

15.8

S65c heterozygous

Male, female

15.4, 16.6

44.4, 57.3

**Table 3.** Median Ferritin Levels in Patients Receiving and not Receiving Phlebotomy in Each Subset of HFE Mutations
HFE mutation	Number of patients (n)	Phlebotomy	Median ferritin (ng/mL)	No phlebotomy	Median ferritin (ng/mL)
C282Y/C282Y	44	38	535	6	167
C282Y/H63D	27	20	435.5	7	218
H63D/H63D	10	6	702	4	136.5
C282Y heterozygous	25	15	465	10	121
H63D heterozygous	41	19	412	22	143.5

Table 3. Median Ferritin Levels in Patients Receiving and not Receiving Phlebotomy in Each Subset of HFE Mutations

HFE mutation

Number of patients (n)

Phlebotomy

Median ferritin (ng/mL)

No phlebotomy

Median ferritin (ng/mL)

C282Y/C282Y

535

167

C282Y/H63D

435.5

218

H63D/H63D

702

136.5

C282Y heterozygous

465

121

H63D heterozygous

412

143.5