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) |