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Rare Hematological Diseases - Disease Groups

As a result of the revision and discussion of the RHD-DGs during the Board of the Network meeting (13-14 November 2019, Barcelona), a total of 70 RHD-DG has been identified. The Haemochromatosis (HH) and other rare genetic disorders of iron metabolism and heme synthesis subnetworks includes 11 disease groups encompassing 29 disorders

RHD-DGs and disorders included are currently under revision for final approval.


Haemochromatosis and other rare genetic disorders of iron metabolism and heme synthesis

Disease Group Disorders included
Sideroblastic anemia (other than Severe congenital hypochromic anemia with ringed sideroblasts)  
Acquired idiopathic sideroblastic anemia
Constitutional sideroblastic anemia
Pearson syndrome
Mitochondrial myopathy and sideroblastic anemia
X-linked sideroblastic anemia and ataxia
Thiamine-responsive megaloblastic anemia syndrome
X-linked sideroblastic anemia
Adult-onset autosomal recessive sideroblastic anemia
Autosomal recessive sideroblastic anemia
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
   
Congenital atransferrinemia Congenital atransferrinemia
Microcytic anemia with liver iron overload Microcytic anemia with liver iron overload
Severe congenital hypochromic anemia with ringed sideroblasts Severe congenital hypochromic anemia with ringed sideroblasts
IRIDA syndrome IRIDA syndrome
Aceruloplasminemia Aceruloplasminemia
HFE related hereditary hemochromatosis (Symptomatic form of hemochromatosis type 1 - OMIM 235199) HFE related hereditary hemochromatosis (Symptomatic form of hemochromatosis type 1 - OMIM 235199
   
Rare hereditary hemochromatosis (Other) and Ferroportin disease HJV related hereditary hemochromatosis - OMIM 602390 (Hemochromatosis type 2A) 
HAMP related hereditary hemochromatosis - OMIM 613313 (Hemochromatosis type 2B) 
TFR2 related hereditary hemochromatosis OMIM 604250 (Hemochromatosis type 3) 
FTH related hereditary hemochromatosis  - OMIM 615517 (Hemochromatosis type 5)
SLC40A1 related hereditary hemochromatosis - OMIM 606069  (Hemochromatosis type 4A) 
Ferroportin Disease (Hemochromatosis type 4B)
   
Hereditary Hyperferritinemia with or without cataract (OMIM 600886) Hereditary hyperferritinemia with congenital cataracts
Genetic hyperferritinemia without iron overload
   
Rare hereditary hemochromatosis (Other) and Ferroportin disease Autosomal erythropoietic protoporphyria (OMIM177000)
X-linked erythropoietic protoporphyria (OMOM300752)
Erythropoietic uroporphyria associated with myeloid malignancy
Sporadic porphyria cutanea tarda (OMOM176090)
Familial porphyria cutanea tarda (OMIM176100)
Hepatoerythropoietic porphyria (OMIM176100)
Hereditary coproporphyria (OMIM121300)
Porphyria variegata (OMIM176200)
Congenital erythropoietic porphyria (OMIM263700)
Acute Intermitent porphyria (OMIM176000)
Porphyria due to ALA dehydratase deficiency (OMIM612740)

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