Contact us   |  

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

Euro Blood Net