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.
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 |