GITNUXREPORT 2026

Hemochromatosis Statistics

Hemochromatosis is a genetic iron overload condition primarily affecting Northern Europeans.

Rajesh Patel

Team Lead & Senior Researcher with over 15 years of experience in market research and data analytics.

First published: Feb 13, 2026

Our Commitment to Accuracy

Rigorous fact-checking · Reputable sources · Regular updatesLearn more

Statistic 1

Cirrhosis develops in 20-30% of untreated C282Y homozygotes

Statistic 2

Hepatocellular carcinoma risk 200-fold increased in HH cirrhosis vs general population

Statistic 3

Diabetes mellitus in 30-50% of symptomatic HH patients at diagnosis

Statistic 4

HCC annual incidence 2-4% in cirrhotic HH

Statistic 5

Cardiac arrhythmia death accounts for 30% of mortality in untreated HH

Statistic 6

Hypogonadotropic hypogonadism leads to infertility in 25% untreated men

Statistic 7

Osteoporosis fracture risk 3-fold higher in HH men under 60

Statistic 8

Dilated cardiomyopathy in 15% of advanced untreated cases, ejection fraction <40%

Statistic 9

5-year survival post-HCC diagnosis in HH is 20%

Statistic 10

Arthropathy progresses despite treatment in 20-30%, requiring joint replacement in 5%

Statistic 11

Liver failure mortality reduced from 60% to 10% with early phlebotomy

Statistic 12

Parkinson's disease risk increased 2-fold in HH due to brain iron

Statistic 13

Impotence persists in 20% despite treatment if longstanding

Statistic 14

Secondary hemochromatosis from transfusions increases cardiac death by 50%

Statistic 15

Cholelithiasis in 20-30% due to cirrhosis

Statistic 16

Porphyria cutanea tarda complicates 20% of HH cases, blisters heal slower

Statistic 17

10-year life expectancy normalized with treatment if no cirrhosis

Statistic 18

HCC multifocal in 40% of HH cirrhotics at diagnosis

Statistic 19

Hearing loss bilateral severe in 10% advanced cases

Statistic 20

Splenomegaly with hypersplenism in 15% cirrhotic HH

Statistic 21

Esophageal varices bleed risk 20-30% per year untreated cirrhosis

Statistic 22

Neurodegeneration mimics ALS in rare advanced iron brain deposition

Statistic 23

Diabetes insulin dependence in 60% of HH cases, nephropathy risk +2x

Statistic 24

The C282Y mutation in HFE gene accounts for 80-90% of hereditary hemochromatosis cases in populations of Northern European origin

Statistic 25

H63D mutation in HFE is a common polymorphism with allele frequency of 15-20% in Europeans but rarely pathogenic alone

Statistic 26

Compound heterozygosity for C282Y/H63D occurs in 2-5% of Caucasians and increases iron absorption mildly

Statistic 27

Type 2A hemochromatosis is caused by mutations in HJV (hemojuvelin) gene on chromosome 1q21

Statistic 28

Ferroportin (SLC40A1) gene mutations cause type 4 hemochromatosis with autosomal dominant inheritance

Statistic 29

HAMP gene (hepcidin) mutations lead to type 2B juvenile hemochromatosis, autosomal recessive

Statistic 30

TFR2 gene mutations cause type 3 hemochromatosis, rare, autosomal recessive, chromosome 7q22

Statistic 31

Neonatal hemochromatosis is associated with maternal-fetal alloimmunity to alpha-1-antitrypsin, not primarily genetic

Statistic 32

Over 40 pathogenic mutations identified in HFE gene, but C282Y is the most penetrant

Statistic 33

S65C mutation in HFE is rare (allele frequency <0.5%) and associated with mild iron overload

Statistic 34

Hepcidin, encoded by HAMP, is the master regulator of iron homeostasis, deficient in most hemochromatosis types

Statistic 35

Matriptase-2 (TMPRSS6) loss-of-function mutations cause iron-refractory iron deficiency anemia, opposite of hemochromatosis, but relevant pathway

Statistic 36

BMP6 mutations are linked to rare iron overload disorders resembling hemochromatosis

Statistic 37

The C282Y mutation substitutes tyrosine for cysteine at position 282, disrupting HFE-beta2-microglobulin interaction

Statistic 38

HJV acts as BMP co-receptor, enhancing hepcidin transcription; mutations abolish this

Statistic 39

Ferroportin p.Val162del mutation causes classical type 4B hemochromatosis with iron accumulation in Kupffer cells

Statistic 40

Genetic penetrance varies; C282Y homozygotes have 2-4 fold increased transferrin saturation

Statistic 41

Rare HFE mutations like I105T and G93R are associated with increased ferritin without C282Y

Statistic 42

Polygenic inheritance influences penetrance, with TMPRSS6 variants modulating HFE effects

Statistic 43

Autosomal recessive inheritance for HFE-related HH; both alleles must be mutated for disease

Statistic 44

H63D/C282Y compound heterozygotes have 1.5-2x normal ferritin in 20-30% of cases

Statistic 45

Next-generation sequencing identifies novel variants in non-HFE hemochromatosis in 10% of unexplained cases

Statistic 46

Mouse models: Hfe knockout recapitulates iron overload phenotype

Statistic 47

Hepcidin knockout mice die of iron overload by 9 months

Statistic 48

Genetic testing for HFE detects 90% of HH cases in appropriate populations

Statistic 49

Hereditary hemochromatosis affects approximately 1 in 200 to 1 in 300 individuals of Northern European descent as homozygous for the C282Y mutation in the HFE gene

Statistic 50

In the United States, the carrier frequency for HFE C282Y mutation is about 1 in 10 among Caucasians

Statistic 51

Global prevalence of hereditary hemochromatosis type 1 (HFE-related) is estimated at 0.3-0.5% in populations of European ancestry

Statistic 52

Among blood donors in the US, 0.4% are homozygous for C282Y, indicating a carrier rate of around 12%

Statistic 53

In Australia, the prevalence of C282Y homozygosity is 0.48% in men and 0.32% in women

Statistic 54

Hemochromatosis is more common in men, with a male-to-female ratio of about 2:1 for clinical penetrance

Statistic 55

In Ireland, the frequency of C282Y homozygotes is as high as 1 in 83

Statistic 56

Non-HFE hemochromatosis accounts for less than 5% of cases in Europe but up to 20% in other populations

Statistic 57

Juvenile hemochromatosis prevalence is rare, estimated at 1 in 1,000,000

Statistic 58

In African Americans, HFE C282Y homozygosity is only 0.00014%

Statistic 59

The HFE C282Y mutation originated about 60 generations ago in Celtic populations

Statistic 60

Penetrance of C282Y homozygosity is 80% biochemical but only 25-30% clinical in men

Statistic 61

In Canada, screening studies show 1 in 227 Caucasians are C282Y homozygotes

Statistic 62

Neonatal screening detects hemochromatosis genotypes at 0.25-0.5% in US newborns of European descent

Statistic 63

In Southern Europe, C282Y allele frequency drops to 5-10% compared to 10-15% in the north

Statistic 64

African iron overload (Bantu siderosis) affects up to 10% of rural black South Africans

Statistic 65

In porphyria cutanea tarda patients, 70-90% have HFE mutations contributing to iron overload

Statistic 66

Type 2A hemochromatosis (HJV mutations) prevalence is 1-2 per million in Europe

Statistic 67

Ferroportin disease (type 4) represents 2-10% of hemochromatosis cases in referral centers

Statistic 68

In Asia, TMPRSS6 mutations linked to iron overload in 1-2% of cases mimicking hemochromatosis

Statistic 69

US annual incidence of clinically diagnosed hemochromatosis is about 1 per 10,000

Statistic 70

Women with C282Y homozygosity have 50% lower risk of clinical disease due to menstruation

Statistic 71

In Utah population database, lifetime risk for C282Y homozygotes developing iron overload is 38% in men

Statistic 72

Brazilian studies show C282Y homozygosity at 0.24% in general population

Statistic 73

In French populations, H63D homozygosity prevalence is 1.5%

Statistic 74

Neonatal hemochromatosis incidence is 1 in 100,000 live births

Statistic 75

Alcoholics have 25-50% prevalence of HFE mutations

Statistic 76

In Sardinia, HAMP mutations (type 2B) are found in 1:100,000

Statistic 77

Global non-alcoholic fatty liver disease patients have 30% HFE mutation rate

Statistic 78

In Iceland, C282Y frequency is 8.3% allele rate

Statistic 79

Transferrin saturation >45% is first diagnostic marker, present in 90% of C282Y homozygotes before age 50

Statistic 80

Serum ferritin >1000 ng/mL indicates significant iron overload in hemochromatosis

Statistic 81

Liver biopsy shows grade 4 siderosis (4+ iron in hepatocytes) in 80% of untreated HH patients

Statistic 82

MRI liver iron concentration >200 μmol/g predicts cirrhosis risk with 85% accuracy

Statistic 83

Elevated transferrin saturation with normal ferritin occurs in 60% of presymptomatic C282Y homozygotes

Statistic 84

Fatigue is reported in 75-90% of symptomatic hemochromatosis patients at diagnosis

Statistic 85

Arthralgia, especially in metacarpophalangeal joints 2 and 3, affects 40-60% of patients

Statistic 86

Hypogonadism due to pituitary iron deposition occurs in 30-50% of untreated men

Statistic 87

Echocardiography shows diastolic dysfunction in 25% of asymptomatic HH patients

Statistic 88

Genetic testing positive for C282Y homozygosity has 95% specificity for HH in high-risk populations

Statistic 89

Fasting transferrin saturation >60% in men or >50% in women prompts HFE testing per AASLD guidelines

Statistic 90

Serum ferritin rises at 20-30 μg/L per year in untreated C282Y homozygotes

Statistic 91

Bronze diabetes (skin pigmentation + diabetes) classic triad in only 10-20% at presentation

Statistic 92

Abnormal liver enzymes (ALT/AST >2x ULN) in 20-30% of presymptomatic HH

Statistic 93

Superficial siderosis of skin biopsy confirms diagnosis in ambiguous cases

Statistic 94

FibroScan liver stiffness >12 kPa indicates advanced fibrosis with 90% PPV in HH

Statistic 95

Oral glucose tolerance test abnormal in 40% of HH patients without known diabetes

Statistic 96

Polysomnography shows sleep apnea in 50% of symptomatic HH males

Statistic 97

DEXA scan reveals osteoporosis in 25-40% of men with HH at diagnosis

Statistic 98

Electrocardiogram QT prolongation in 15% due to iron cardiomyopathy

Statistic 99

HLA typing historically used; A3-B14 haplotype in 80% of HH patients pre-HFE discovery

Statistic 100

Serum iron >200 μg/dL with 90% saturation diagnostic in context of symptoms

Statistic 101

Hepatic iron index (ferritin/age / liver iron conc) >1.9 confirms HH over secondary overload

Statistic 102

Brain MRI shows basal ganglia hypointensity in 30% of advanced HH cases

Statistic 103

Impotence reported by 45% of men at diagnosis, resolving with phlebotomy in 60%

Statistic 104

Amenorrhea in 20-30% of premenopausal women with untreated HH

Statistic 105

Audiometry reveals sensorineural hearing loss in 30% of HH patients

Statistic 106

Fasting serum hepcidin <20 ng/mL in 95% of HH patients vs normals

Statistic 107

Erythrocyte mean corpuscular volume low in 10% due to concurrent deficiencies

Statistic 108

Phlebotomy response: ferritin decline 30-50 mg/L per 500 mL blood removed

Statistic 109

Therapeutic phlebotomy targets ferritin <50 ng/mL, reducing mortality by 50%

Statistic 110

Iron chelation with deferasirox 20-30 mg/kg/day normalizes ferritin in 70% of transfusion-dependent HH

Statistic 111

Weekly phlebotomy of 500 mL removes 250 mg iron, sufficient for most adults

Statistic 112

MRI monitoring post-phlebotomy shows LIC reduction of 40-60% in 12 months

Statistic 113

Erythropoietin 10,000 U/week allows intensified phlebotomy in 80% without anemia

Statistic 114

Liver transplant survival 5-year rate 80% in decompensated HH cirrhosis

Statistic 115

Deferoxamine 40 mg/kg/night subcutaneous chelation mobilizes 30-50 mg iron/day

Statistic 116

Family screening with genetic testing identifies 25% at-risk relatives needing intervention

Statistic 117

Phlebotomy prevents diabetes progression in 60% of impaired glucose tolerant HH patients

Statistic 118

Low-iron diet (<8 mg/day) augments phlebotomy efficacy by 20-30%

Statistic 119

Vitamin C 500 mg/day enhances iron excretion during chelation by 2-3 fold

Statistic 120

Tamoxifen reduces ferritin by 20% in HH with breast cancer comorbidity, anecdotal

Statistic 121

Maintenance phlebotomy every 2-3 months keeps ferritin normal in 90% long-term

Statistic 122

Deferiprone 75 mg/kg/day oral chelator effective in cardiac iron overload in HH

Statistic 123

Early phlebotomy before ferritin >1000 prevents cirrhosis in 95% of cases

Statistic 124

Hepatitis C co-infection requires antiviral therapy post-iron depletion, SVR 60%

Statistic 125

Testosterone replacement normalizes hypogonadism in 70% after iron removal

Statistic 126

Bisphosphonates improve BMD in HH osteoporosis post-phlebotomy, +5-10% at 2 years

Statistic 127

CPAP for sleep apnea improves fatigue scores by 40% in HH patients

Statistic 128

Ursodeoxycholic acid no benefit in HH cholestasis

Statistic 129

Experimental hepcidin mimetics in trials reduce iron absorption by 70%

Statistic 130

Phlebotomy reduces ALT by 50% within 6 months in 80% of patients

Statistic 131

Insurance coverage for genetic testing improves screening compliance by 30%

Statistic 132

Cirrhosis risk drops from 40% to <5% with phlebotomy before age 40

Statistic 133

HCC surveillance with US/AFP every 6 months post-iron depletion, detects 70% early

1/133

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Far more common than most people realize, hereditary hemochromatosis quietly affects approximately 1 in 200 individuals of Northern European descent, a genetic quirk that can silently overload the body with iron, leading to a host of serious health complications if left undiagnosed.

Key Takeaways

Hereditary hemochromatosis affects approximately 1 in 200 to 1 in 300 individuals of Northern European descent as homozygous for the C282Y mutation in the HFE gene
In the United States, the carrier frequency for HFE C282Y mutation is about 1 in 10 among Caucasians
Global prevalence of hereditary hemochromatosis type 1 (HFE-related) is estimated at 0.3-0.5% in populations of European ancestry
The C282Y mutation in HFE gene accounts for 80-90% of hereditary hemochromatosis cases in populations of Northern European origin
H63D mutation in HFE is a common polymorphism with allele frequency of 15-20% in Europeans but rarely pathogenic alone
Compound heterozygosity for C282Y/H63D occurs in 2-5% of Caucasians and increases iron absorption mildly
Transferrin saturation >45% is first diagnostic marker, present in 90% of C282Y homozygotes before age 50
Serum ferritin >1000 ng/mL indicates significant iron overload in hemochromatosis
Liver biopsy shows grade 4 siderosis (4+ iron in hepatocytes) in 80% of untreated HH patients
Phlebotomy response: ferritin decline 30-50 mg/L per 500 mL blood removed
Therapeutic phlebotomy targets ferritin <50 ng/mL, reducing mortality by 50%
Iron chelation with deferasirox 20-30 mg/kg/day normalizes ferritin in 70% of transfusion-dependent HH
Cirrhosis develops in 20-30% of untreated C282Y homozygotes
Hepatocellular carcinoma risk 200-fold increased in HH cirrhosis vs general population
Diabetes mellitus in 30-50% of symptomatic HH patients at diagnosis

Hemochromatosis is a genetic iron overload condition primarily affecting Northern Europeans.

Complications and Prognosis

Cirrhosis develops in 20-30% of untreated C282Y homozygotes
Hepatocellular carcinoma risk 200-fold increased in HH cirrhosis vs general population
Diabetes mellitus in 30-50% of symptomatic HH patients at diagnosis
HCC annual incidence 2-4% in cirrhotic HH
Cardiac arrhythmia death accounts for 30% of mortality in untreated HH
Hypogonadotropic hypogonadism leads to infertility in 25% untreated men
Osteoporosis fracture risk 3-fold higher in HH men under 60
Dilated cardiomyopathy in 15% of advanced untreated cases, ejection fraction <40%
5-year survival post-HCC diagnosis in HH is 20%
Arthropathy progresses despite treatment in 20-30%, requiring joint replacement in 5%
Liver failure mortality reduced from 60% to 10% with early phlebotomy
Parkinson's disease risk increased 2-fold in HH due to brain iron
Impotence persists in 20% despite treatment if longstanding
Secondary hemochromatosis from transfusions increases cardiac death by 50%
Cholelithiasis in 20-30% due to cirrhosis
Porphyria cutanea tarda complicates 20% of HH cases, blisters heal slower
10-year life expectancy normalized with treatment if no cirrhosis
HCC multifocal in 40% of HH cirrhotics at diagnosis
Hearing loss bilateral severe in 10% advanced cases
Splenomegaly with hypersplenism in 15% cirrhotic HH
Esophageal varices bleed risk 20-30% per year untreated cirrhosis
Neurodegeneration mimics ALS in rare advanced iron brain deposition
Diabetes insulin dependence in 60% of HH cases, nephropathy risk +2x

Complications and Prognosis Interpretation

Hemochromatosis is essentially a slow-motion heist where your own body pilfers iron and stashes it in your organs, leaving behind a trail of cirrhosis, busted hearts, and broken joints as the interest on a debt you never agreed to pay.

Genetics and Molecular Biology

The C282Y mutation in HFE gene accounts for 80-90% of hereditary hemochromatosis cases in populations of Northern European origin
H63D mutation in HFE is a common polymorphism with allele frequency of 15-20% in Europeans but rarely pathogenic alone
Compound heterozygosity for C282Y/H63D occurs in 2-5% of Caucasians and increases iron absorption mildly
Type 2A hemochromatosis is caused by mutations in HJV (hemojuvelin) gene on chromosome 1q21
Ferroportin (SLC40A1) gene mutations cause type 4 hemochromatosis with autosomal dominant inheritance
HAMP gene (hepcidin) mutations lead to type 2B juvenile hemochromatosis, autosomal recessive
TFR2 gene mutations cause type 3 hemochromatosis, rare, autosomal recessive, chromosome 7q22
Neonatal hemochromatosis is associated with maternal-fetal alloimmunity to alpha-1-antitrypsin, not primarily genetic
Over 40 pathogenic mutations identified in HFE gene, but C282Y is the most penetrant
S65C mutation in HFE is rare (allele frequency <0.5%) and associated with mild iron overload
Hepcidin, encoded by HAMP, is the master regulator of iron homeostasis, deficient in most hemochromatosis types
Matriptase-2 (TMPRSS6) loss-of-function mutations cause iron-refractory iron deficiency anemia, opposite of hemochromatosis, but relevant pathway
BMP6 mutations are linked to rare iron overload disorders resembling hemochromatosis
The C282Y mutation substitutes tyrosine for cysteine at position 282, disrupting HFE-beta2-microglobulin interaction
HJV acts as BMP co-receptor, enhancing hepcidin transcription; mutations abolish this
Ferroportin p.Val162del mutation causes classical type 4B hemochromatosis with iron accumulation in Kupffer cells
Genetic penetrance varies; C282Y homozygotes have 2-4 fold increased transferrin saturation
Rare HFE mutations like I105T and G93R are associated with increased ferritin without C282Y
Polygenic inheritance influences penetrance, with TMPRSS6 variants modulating HFE effects
Autosomal recessive inheritance for HFE-related HH; both alleles must be mutated for disease
H63D/C282Y compound heterozygotes have 1.5-2x normal ferritin in 20-30% of cases
Next-generation sequencing identifies novel variants in non-HFE hemochromatosis in 10% of unexplained cases
Mouse models: Hfe knockout recapitulates iron overload phenotype
Hepcidin knockout mice die of iron overload by 9 months
Genetic testing for HFE detects 90% of HH cases in appropriate populations

Genetics and Molecular Biology Interpretation

Think of hemochromatosis not as a single gene’s tyranny, but as a dysfunctional parliament of iron regulation, where the C282Y mutation is the bombastic majority leader, other HFE mutations are the bickering backbenchers, and the real power—the hepcidin prime minister—is often absent without leave.

Prevalence and Epidemiology

Hereditary hemochromatosis affects approximately 1 in 200 to 1 in 300 individuals of Northern European descent as homozygous for the C282Y mutation in the HFE gene
In the United States, the carrier frequency for HFE C282Y mutation is about 1 in 10 among Caucasians
Global prevalence of hereditary hemochromatosis type 1 (HFE-related) is estimated at 0.3-0.5% in populations of European ancestry
Among blood donors in the US, 0.4% are homozygous for C282Y, indicating a carrier rate of around 12%
In Australia, the prevalence of C282Y homozygosity is 0.48% in men and 0.32% in women
Hemochromatosis is more common in men, with a male-to-female ratio of about 2:1 for clinical penetrance
In Ireland, the frequency of C282Y homozygotes is as high as 1 in 83
Non-HFE hemochromatosis accounts for less than 5% of cases in Europe but up to 20% in other populations
Juvenile hemochromatosis prevalence is rare, estimated at 1 in 1,000,000
In African Americans, HFE C282Y homozygosity is only 0.00014%
The HFE C282Y mutation originated about 60 generations ago in Celtic populations
Penetrance of C282Y homozygosity is 80% biochemical but only 25-30% clinical in men
In Canada, screening studies show 1 in 227 Caucasians are C282Y homozygotes
Neonatal screening detects hemochromatosis genotypes at 0.25-0.5% in US newborns of European descent
In Southern Europe, C282Y allele frequency drops to 5-10% compared to 10-15% in the north
African iron overload (Bantu siderosis) affects up to 10% of rural black South Africans
In porphyria cutanea tarda patients, 70-90% have HFE mutations contributing to iron overload
Type 2A hemochromatosis (HJV mutations) prevalence is 1-2 per million in Europe
Ferroportin disease (type 4) represents 2-10% of hemochromatosis cases in referral centers
In Asia, TMPRSS6 mutations linked to iron overload in 1-2% of cases mimicking hemochromatosis
US annual incidence of clinically diagnosed hemochromatosis is about 1 per 10,000
Women with C282Y homozygosity have 50% lower risk of clinical disease due to menstruation
In Utah population database, lifetime risk for C282Y homozygotes developing iron overload is 38% in men
Brazilian studies show C282Y homozygosity at 0.24% in general population
In French populations, H63D homozygosity prevalence is 1.5%
Neonatal hemochromatosis incidence is 1 in 100,000 live births
Alcoholics have 25-50% prevalence of HFE mutations
In Sardinia, HAMP mutations (type 2B) are found in 1:100,000
Global non-alcoholic fatty liver disease patients have 30% HFE mutation rate
In Iceland, C282Y frequency is 8.3% allele rate

Prevalence and Epidemiology Interpretation

While its "Celtic curse" might sound like the plot of a bad historical romance, hereditary hemochromatosis is a deceptively common iron-wrangling glitch, where your chances of being a genetic carrier in many Western populations are roughly the same as guessing heads on a coin flip, yet most of those affected will never even know they have the condition.

Symptoms and Diagnosis

Transferrin saturation >45% is first diagnostic marker, present in 90% of C282Y homozygotes before age 50
Serum ferritin >1000 ng/mL indicates significant iron overload in hemochromatosis
Liver biopsy shows grade 4 siderosis (4+ iron in hepatocytes) in 80% of untreated HH patients
MRI liver iron concentration >200 μmol/g predicts cirrhosis risk with 85% accuracy
Elevated transferrin saturation with normal ferritin occurs in 60% of presymptomatic C282Y homozygotes
Fatigue is reported in 75-90% of symptomatic hemochromatosis patients at diagnosis
Arthralgia, especially in metacarpophalangeal joints 2 and 3, affects 40-60% of patients
Hypogonadism due to pituitary iron deposition occurs in 30-50% of untreated men
Echocardiography shows diastolic dysfunction in 25% of asymptomatic HH patients
Genetic testing positive for C282Y homozygosity has 95% specificity for HH in high-risk populations
Fasting transferrin saturation >60% in men or >50% in women prompts HFE testing per AASLD guidelines
Serum ferritin rises at 20-30 μg/L per year in untreated C282Y homozygotes
Bronze diabetes (skin pigmentation + diabetes) classic triad in only 10-20% at presentation
Abnormal liver enzymes (ALT/AST >2x ULN) in 20-30% of presymptomatic HH
Superficial siderosis of skin biopsy confirms diagnosis in ambiguous cases
FibroScan liver stiffness >12 kPa indicates advanced fibrosis with 90% PPV in HH
Oral glucose tolerance test abnormal in 40% of HH patients without known diabetes
Polysomnography shows sleep apnea in 50% of symptomatic HH males
DEXA scan reveals osteoporosis in 25-40% of men with HH at diagnosis
Electrocardiogram QT prolongation in 15% due to iron cardiomyopathy
HLA typing historically used; A3-B14 haplotype in 80% of HH patients pre-HFE discovery
Serum iron >200 μg/dL with 90% saturation diagnostic in context of symptoms
Hepatic iron index (ferritin/age / liver iron conc) >1.9 confirms HH over secondary overload
Brain MRI shows basal ganglia hypointensity in 30% of advanced HH cases
Impotence reported by 45% of men at diagnosis, resolving with phlebotomy in 60%
Amenorrhea in 20-30% of premenopausal women with untreated HH
Audiometry reveals sensorineural hearing loss in 30% of HH patients
Fasting serum hepcidin <20 ng/mL in 95% of HH patients vs normals
Erythrocyte mean corpuscular volume low in 10% due to concurrent deficiencies

Symptoms and Diagnosis Interpretation

Hemochromatosis is a master of disguise that quietly hoards iron in every conceivable tissue, yet has the gall to send a bill—in the form of fatigue, joint pain, and organ damage—that arrives long after the diagnostic paperwork, like transferrin saturation over 45%, has already been filed.

Treatment and Management

Phlebotomy response: ferritin decline 30-50 mg/L per 500 mL blood removed
Therapeutic phlebotomy targets ferritin <50 ng/mL, reducing mortality by 50%
Iron chelation with deferasirox 20-30 mg/kg/day normalizes ferritin in 70% of transfusion-dependent HH
Weekly phlebotomy of 500 mL removes 250 mg iron, sufficient for most adults
MRI monitoring post-phlebotomy shows LIC reduction of 40-60% in 12 months
Erythropoietin 10,000 U/week allows intensified phlebotomy in 80% without anemia
Liver transplant survival 5-year rate 80% in decompensated HH cirrhosis
Deferoxamine 40 mg/kg/night subcutaneous chelation mobilizes 30-50 mg iron/day
Family screening with genetic testing identifies 25% at-risk relatives needing intervention
Phlebotomy prevents diabetes progression in 60% of impaired glucose tolerant HH patients
Low-iron diet (<8 mg/day) augments phlebotomy efficacy by 20-30%
Vitamin C 500 mg/day enhances iron excretion during chelation by 2-3 fold
Tamoxifen reduces ferritin by 20% in HH with breast cancer comorbidity, anecdotal
Maintenance phlebotomy every 2-3 months keeps ferritin normal in 90% long-term
Deferiprone 75 mg/kg/day oral chelator effective in cardiac iron overload in HH
Early phlebotomy before ferritin >1000 prevents cirrhosis in 95% of cases
Hepatitis C co-infection requires antiviral therapy post-iron depletion, SVR 60%
Testosterone replacement normalizes hypogonadism in 70% after iron removal
Bisphosphonates improve BMD in HH osteoporosis post-phlebotomy, +5-10% at 2 years
CPAP for sleep apnea improves fatigue scores by 40% in HH patients
Ursodeoxycholic acid no benefit in HH cholestasis
Experimental hepcidin mimetics in trials reduce iron absorption by 70%
Phlebotomy reduces ALT by 50% within 6 months in 80% of patients
Insurance coverage for genetic testing improves screening compliance by 30%
Cirrhosis risk drops from 40% to <5% with phlebotomy before age 40
HCC surveillance with US/AFP every 6 months post-iron depletion, detects 70% early

Treatment and Management Interpretation

Hemochromatosis is a highly treatable iron management disorder where consistent, sometimes rigorous, bloodletting isn't a medieval throwback but a modern lifesaver, dramatically slashing mortality and preventing a cascade of complications from cirrhosis to diabetes when caught and managed with disciplined regularity.

Sources & References

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