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 Red Blood Cell Defects subnetwork includes 10 disease groups encompassing 59 disorders.
RHD-DGs and disorders included are currently under revision for final approval.
Red Blood Cell Defects
| Disease Group | Disorders included |
|---|---|
| Alpha-thalassemia and related diseases | Hemoglobin H disease |
| Hb Bart's hydrops fetalis | |
| Alpha-thalassemia-X-linked intellectual disability syndrome | |
| Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | |
| Alpha-thalassemia-myelodysplastic syndrome | |
| Beta-thalassemia and related diseases | Beta-thalassemia major |
| Beta-thalassemia intermedia | |
| Dominant beta-thalassemia | |
| Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | |
| Delta-beta-thalassemia | |
| Hemoglobin C-beta-thalassemia syndrome | |
| Hemoglobin E-beta-thalassemia syndrome | |
| Sickle cell disease and related diseases | Hemoglobin Lepore-beta-thalassemia syndrome |
| Beta-thalassemia-X-linked thrombocytopenia syndrome | |
| Sickle cell anemia | |
| Sickle cell-beta-thalassemia disease syndrome | |
| Sickle cell-hemoglobin C disease syndrome | |
| Sickle cell-hemoglobin D disease syndrome | |
| Sickle cell-hemoglobin E disease syndrome | |
| Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | |
| Hemoglobinopathy (Other than SCD and THAL) | Hemoglobinopathy Toms River |
| Hereditary methemoglobinemia | |
| Hemoglobin C disease | |
| Hemoglobin M disease | |
| Acquired methemoglobinemia | |
| Hemoglobin E disease | |
| Hemoglobin D disease | |
| Unstable hemoglobin disease | |
| Hemolytic anemia due to red cell pyruvate kinase deficiency | Red cell pyruvate kinase deficiency |
| Rare constitutional hemolytic anemia due to an enzyme disorder (Other than PKD) | Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies |
| Glutathione synthetase deficiency with 5-oxoprolinuria | |
| Glutathione synthetase deficiency without 5-oxoprolinuria | |
| Gamma-glutamylcysteine synthetase deficiency | |
| Hemolytic anemia due to glutathione reductase deficiency | |
| 6-phosphogluconate dehydrogenase deficiency | |
| Hemolytic anemia due to a disorder of glycolytic enzymes | |
| Glycogen storage disease due to muscle phosphofructokinase deficiency | |
| Triose phosphate-isomerase deficiency | |
| Glycogen storage disease due to aldolase A deficiency | |
| Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | |
| Hemolytic anemia due to glucophosphate isomerase deficiency | |
| Hemolytic anemia due to diphosphoglycerate mutase deficiency | |
| Non-spherocytic hemolytic anemia due to hexokinase deficiency | |
| Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency | |
| Class I glucose-6-phosphate dehydrogenase deficiency | |
| Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder | |
| Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | |
| Hemolytic anemia due to adenylate kinase deficiency | |
| Hemolytic anemia due to erythrocyte adenosine deaminase overproduction | |
| Hereditary spherocytosis | Hereditary spherocytosis |
| Hereditary elliptocytosis | Hereditary elliptocytosis |
| Hereditary stomatocytosis | Overhydrated hereditary stomatocytosis |
| Dehydrated hereditary stomatocytosis | |
| Rh deficiency syndrome | |
| Familial pseudohyperkalemia | |
| Southeast Asian ovalocytosis | |
| Hereditary cryohydrocytosis with reduced stomatin | |
| Hereditary cryohydrocytosis with normal stomatin | |
| Rare constitutional hemolytic anemia due to a red cell membrane anomaly (Other) | Distal renal tubular acidosis with anemia |
| Constitutional hemolytic anemia due to acanthocytosis (Abetalipoproteinemia) | |
| Constitutional hemolytic anemia due to acanthocytosis (McLeod neuroacanthocytosis syndrome) | |
| Primary CD59 deficiency |
