haemochromatosis

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HAEMOCHROMATOSIS DEFINITION Haemosiderosis is the deposition of hemosiderin (iron); haemochromatosis is the disease caused by iron deposition. AETIOLOGY Disease may be primary or secondary (e.g. chronic transfusion therapy like in beta-thalassemia major) GENETICS Associated with HLA A3 Primary haemochromatosis due to C282Y or H63D mutation on HFE gene o C282Y Homozygote – most will accumulate iron, only a minority will develop symptoms. Men are affected more often than women o H63D homozygote – Most have normal iron levels. A few may develop iron overload. Not as bad as C282Y Homozygote o Compound Heterozygote (C282Y and H63D) – Most have normal iron levels. Moderate iron overload can develop. Severe iron overload may occur if there are other risk factors e.g. alcoholism or viral hepatitis. o C282Y heterozygote – about 10% of white people have this genotype; most have normal iron levels o H63D heterozygote- About 20% of white people have this genotype. Very unlikely to cause iron overload seek another cause. CLASSIC PRESENTATION Triad of: o Micronodular cirrhosis o Diabetes Mellitus o Skin Pigmentation “Bronze Diabetes” Can also result in: o CHF o Testicular atrophy o Increased risk of hepatocellular carcinoma Hereditary form is normally asymptomatic until late stages of the disease. Symptoms usually start between ages 30- 50. INVESTIGATIONS Increase in ferritin, iron and decreased TIBC Transferrin saturation will increase o Normally this will occur first TREATMENT OF HEREDITARY HAEMOCHROMATOSIS Repeated phlebotomy Deferasirox Deferoxamine

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haemochroatosis

Transcript of haemochromatosis

Page 1: haemochromatosis

HAEMOCHROMATOSIS

DEFINITION

Haemosiderosis is the deposition of hemosiderin (iron); haemochromatosis is the disease caused by iron deposition.

AETIOLOGY

Disease may be primary or secondary (e.g. chronic transfusion therapy like in beta-thalassemia major)

GENETICS

Associated with HLA A3 Primary haemochromatosis due to C282Y or

H63D mutation on HFE geneo C282Y Homozygote – most will

accumulate iron, only a minority will develop symptoms. Men are affected more often than women

o H63D homozygote – Most have normal iron levels. A few may develop iron overload. Not as bad as C282Y Homozygote

o Compound Heterozygote (C282Y and H63D) – Most have normal iron levels. Moderate iron overload can develop. Severe iron overload may occur if there are other risk factors e.g. alcoholism or viral hepatitis.

o C282Y heterozygote – about 10% of white people have this genotype; most have normal iron levels

o H63D heterozygote- About 20% of white people have this genotype. Very unlikely to cause iron overload seek another cause.

CLASSIC PRESENTATION

Triad of:o Micronodular cirrhosiso Diabetes Mellituso Skin Pigmentation “Bronze Diabetes”

Can also result in:o CHFo Testicular atrophyo Increased risk of hepatocellular

carcinoma

Hereditary form is normally asymptomatic until late stages of the disease. Symptoms usually start between ages 30-50.

INVESTIGATIONS

Increase in ferritin, iron and decreased TIBC Transferrin saturation will increase

o Normally this will occur first

TREATMENT OF HEREDITARY HAEMOCHROMATOSIS

Repeated phlebotomy Deferasirox Deferoxamine

Arteriography coeliac superior artery haemochromatosis with … · 2008. 12. 17. · Arteriography ofthe coeliac axis through a catheter placed within the coeliac axis. The angiographic

Arteriography coeliac superior artery haemochromatosis with … · 2008. 12. 17. · Arteriography ofthe coeliac axis through a catheter placed within the coeliac axis. The angiographic

Screening for haemochromatosis- evolution of data over 20 ...

Screening for haemochromatosis- evolution of data over 20 ...

Preliminary results for the year ended 31 December 2018 ... · SLN124 for iron overload disorders as seen in beta-thalassemia, myelodysplastic syndrome (MDS) and hereditary haemochromatosis

Preliminary results for the year ended 31 December 2018 ... · SLN124 for iron overload disorders as seen in beta-thalassemia, myelodysplastic syndrome (MDS) and hereditary haemochromatosis

Med Allelic associations homozygosity HLA-B …Allelic associations andhomozygosity at locifrom HLA-Bto D6S299in genetic haemochromatosis Table 1 AllelefrequenciesfromHLA-Bto D6S299in

Med Allelic associations homozygosity HLA-B …Allelic associations andhomozygosity at locifrom HLA-Bto D6S299in genetic haemochromatosis Table 1 AllelefrequenciesfromHLA-Bto D6S299in

POLYNEURITIS IN HAEMOCHROMATOSIS...February I964 WASTELL:CongenitalPenile Sinuis 97 Wf. FIG. 3.-Amicrophotograph of a section, stained with hematoxylin andeosin, ofthe posterior sinus.

POLYNEURITIS IN HAEMOCHROMATOSIS...February I964 WASTELL:CongenitalPenile Sinuis 97 Wf. FIG. 3.-Amicrophotograph of a section, stained with hematoxylin andeosin, ofthe posterior sinus.

ABUHB Liver Disease Delivery Plan 2015-2020 1. … Liver Disease... · Sclerosing Cholangitis) Inherited metabolic liver diseases such as Haemochromatosis, alpha-1 ... ABUHB Liver

ABUHB Liver Disease Delivery Plan 2015-2020 1. … Liver Disease... · Sclerosing Cholangitis) Inherited metabolic liver diseases such as Haemochromatosis, alpha-1 ... ABUHB Liver

Haemochromatosis: The bone and the joint · blood removal. However, despitetreatment byphlebotomies, patients’ qualityof life is often altered by the rheumatological conditions

Haemochromatosis: The bone and the joint · blood removal. However, despitetreatment byphlebotomies, patients’ qualityof life is often altered by the rheumatological conditions

Diagnosisandtreatment ofnon-HFE-haemochromatosis570-583).pdf · *CHAPTER24 Diagnosisandtreatment ofnon-HFE-haemochromatosis ClaraCamaschella IRON2009_CAP.24(570-583):EBMT2008 4-12-2009

Diagnosisandtreatment ofnon-HFE-haemochromatosis570-583).pdf · *CHAPTER24 Diagnosisandtreatment ofnon-HFE-haemochromatosis ClaraCamaschella IRON2009_CAP.24(570-583):EBMT2008 4-12-2009

HAEMATOLOGY Screen 23 Haemochromatosis Gene Testing (H63D, C282Y) 23 Haptoglobin 24 Haemoglobin A2 (Hb A2) 24 Haemoglobin F (Hb F) 24 Haemoglobin S (Hb S) 24 Haemoglobinopathy Screen

HAEMATOLOGY Screen 23 Haemochromatosis Gene Testing (H63D, C282Y) 23 Haptoglobin 24 Haemoglobin A2 (Hb A2) 24 Haemoglobin F (Hb F) 24 Haemoglobin S (Hb S) 24 Haemoglobinopathy Screen

HEREDITARY HAEMOCHROMATOSIS. What Is It? An inherited disease characterised by excess iron deposition in various organs Leads to eventual fibrosis and.

HEREDITARY HAEMOCHROMATOSIS. What Is It? An inherited disease characterised by excess iron deposition in various organs Leads to eventual fibrosis and.

of Clinical Genetics DNAANALYSISIN GENETIC · Gaucher'sdisease vonHippel-Lindau disease Huntington'schorea Polyposiscoli Haemochromatosis 21-Hydroxylase deficiency Osteogenesisimperfecta

of Clinical Genetics DNAANALYSISIN GENETIC · Gaucher'sdisease vonHippel-Lindau disease Huntington'schorea Polyposiscoli Haemochromatosis 21-Hydroxylase deficiency Osteogenesisimperfecta

Changing concepts haemochromatosis · haemochromatosis are usually easily recognized (Table 2). However, diagnostic problems mayarise in alcoholic patients, especially social derelicts,

Changing concepts haemochromatosis · haemochromatosis are usually easily recognized (Table 2). However, diagnostic problems mayarise in alcoholic patients, especially social derelicts,

Neonatal haemochromatosis and gestational …...Neonatal Liver Cirrhosis Without Iron Overload Caused by Gestational Alloimmune Liver Disease Debray FG, de HalleuxV, GuidiO, DetrembleurN,

Neonatal haemochromatosis and gestational …...Neonatal Liver Cirrhosis Without Iron Overload Caused by Gestational Alloimmune Liver Disease Debray FG, de HalleuxV, GuidiO, DetrembleurN,

The spine in idiopathic haemochromatosis · Spine in idiopathic haemochromatosis 455 Table1I Pathologicalfindings in lumbarspine ofsix autopsiedcases Caseno. I 2 M LI-SI eration LI-2andL4-5

The spine in idiopathic haemochromatosis · Spine in idiopathic haemochromatosis 455 Table1I Pathologicalfindings in lumbarspine ofsix autopsiedcases Caseno. I 2 M LI-SI eration LI-2andL4-5

Healthy Eating and Haemochromatosis

Healthy Eating and Haemochromatosis

Hereditary haemochromatosis through 150 years · haemochromatosis was a congenital metabolic disorder. Later on, the discovery of ferritin and transferrin, and the fact that the iron

Hereditary haemochromatosis through 150 years · haemochromatosis was a congenital metabolic disorder. Later on, the discovery of ferritin and transferrin, and the fact that the iron

TRANSFUSIONAL HAEMOSIDEROSIS SIMULATING …J. clin. Path. (1958), 11, 128. TRANSFUSIONAL HAEMOSIDEROSIS SIMULATING HAEMOCHROMATOSIS BY J. TREVOR HUGHES AND LESLIE H. TRUELOVE From

TRANSFUSIONAL HAEMOSIDEROSIS SIMULATING …J. clin. Path. (1958), 11, 128. TRANSFUSIONAL HAEMOSIDEROSIS SIMULATING HAEMOCHROMATOSIS BY J. TREVOR HUGHES AND LESLIE H. TRUELOVE From

Haemochromatosis...Haemochromatosis Some fast facts • Haemochromatosis is the most common genetic disorder, affecting approximately 1 in every 200 Australians of European origin.

Haemochromatosis...Haemochromatosis Some fast facts • Haemochromatosis is the most common genetic disorder, affecting approximately 1 in every 200 Australians of European origin.

Associations with Haemochromatosis genetic variantsHereditary Haemochromatosis Iron overload - reduced control of iron absorption fatigue, chronic pain Arthritis –widespread, early

Associations with Haemochromatosis genetic variantsHereditary Haemochromatosis Iron overload - reduced control of iron absorption fatigue, chronic pain Arthritis –widespread, early

NON-HFE IRON OVERLOAD: IS PHLEBOTOMY THE ANSWER · do not correlate with serum ferritin levels in Hereditary Haemochromatosis (>7.1kPa) [24]. A longitudinal study in transfusion-independent

NON-HFE IRON OVERLOAD: IS PHLEBOTOMY THE ANSWER · do not correlate with serum ferritin levels in Hereditary Haemochromatosis (>7.1kPa) [24]. A longitudinal study in transfusion-independent