Rare Disease Library

Sickle cell S-E disease

HbSE disease · Hemoglobin S-E disease

Alpha-thalassemia-myelodysplastic syndrome

Acquired HbH disease · Acquired hemoglobin H disease

Glycogen storage disease due to liver glycogen phosphorylase deficiency

GSD due to liver glycogen phosphorylase deficiency · Glycogen storage disease type 6

Hemoglobin Bart's fetalis syndrome

Alpha-thalassemia hydrops fetalis · Alpha-thalassemia major

Hemoglobin C disease

HbCC disease

Hemoglobin D disease

Hemoglobin E disease

Hemoglobin H disease

Alpha-thalassemia intermedia · HbH disease

Hemoglobin M disease

M hemoglobinopathy · Autosomal dominant methemoglobinemia

Homozygous hemoglobin O Arab disease

Homozygous O Arab hemoglobinopathy

Lethal congenital contracture syndrome type 1

Herva disease · LCCS1

Low oxygen affinity gamma chain hemoglobin disease

Methionine adenosyltransferase I/III deficiency

MAT I/III deficiency · Mudd's disease

OBSOLETE: Unstable hemoglobin disease

Sickle cell anemia

Homozygous hemoglobin S · Homozygous sickle cell anemia SS

Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant

HbSS disease · SCD

Sickle cell S-C disease

Hemoglobin S-C disease · HbSC disease

Sickle cell S-D Punjab disease

HbSD disease · Hemoglobin S-D Punjab disease

Sickle cell S-Lepore disease

Hemoglobin S-Lepore disease · HbS-Lepore disease

Sickle cell S-O Arab disease

Hemoglobin S-O Arab disease · HbS-O Arab disease

Sickle cell S-other specified hemoglobin variant

HbS-other specified hemoglobin variant disease