Category
page 1Hereditary hemolytic anemias
sickle-cell disease
group of genetic blood disorders

thalassemia
Thalassemias are a group of inherited blood disorders that manifest as the production of reduced hemoglobin. Symptoms depend on the type of thalassemia and can vary from none to severe, including death. Often there is mild-to-severe anemia (low red blood cells or hemoglobin), as thalassemia can affect the production of red blood cells and also affect how long the red blood cells live. Symptoms include tiredness, pallor, bone problems, an enlarged spleen, jaundice, pulmonary hypertension, and dark urine. A child's growth and development may be slower than normal.
glucose-6-phosphate dehydrogenase deficiency
carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH)
hereditary spherocytosis
congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape

hemoglobinopathy
Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the major protein of red blood cells. They are generally single-gene disorders and, in most cases, they are inherited as autosomal recessive traits.
beta thalassemia
thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin
hereditary elliptocytosis
hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present
alpha thalassemia
Alpha-thalassemia (α-thalassemia, α-thalassaemia) is an inherited blood disorder and a form of thalassemia. Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin, the molecule that carries oxygen in the blood. Symptoms depend on the extent to which hemoglobin is deficient, and include anemia, pallor, tiredness, enlargement of the spleen, iron overload, abnormal bone structure, jaundice, and gallstones. In severe cases death ensues, often in infancy, or death of the unborn fetus.
triosephosphate isomerase deficiency
Genetic metabolic disorder
pyruvate kinase deficiency
congenital nonspherocytic hemolytic anemia that has material basis in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22