Hemoglobin KEY TERMS


                      

Hemoglobin 

Is the iron-containing oxygen-transport metalloprotein in the red cells of the blood in mammals and other animals.

 

Hemoglobinopathies or Hemoglobin Disorders

 

Hemoglobin is produced by genes that control the expression of the hemoglobin protein. Defects in these genes can produce abnormal hemoglobins and anemia, which are conditions termed "hemoglobinopathies".

 

Hemoglobin C disease

 

A disease of abnormal hemoglobin, occurring in 2-3% of African-Americans. Only those who have two genes for the disease develop anemia, which varies in severity. Symptoms include episodes of abdominal and joint pain, an enlarged spleen and mild jaundice.

 

Hemoglobin H disease

 

A thalassemia-like syndrome causing moderate anemia and red blood cell abnormalities

Heterozygous

Two different genes controlling a specified inherited trait

Homozygous

 

Identical genes controlling a specified inherited trait.

 

Thalassemias

The name for a group of inherited disorders resulting from an imbalance in the production of one of the four chains of amino acids that make up hemoglobin. Thalassemias are categorized according to the amino acid chain affected. The two main types are alpha-thalassemia and beta-thalassemia. The disorders are further characterized by the presence of one defective gene (thalassemia minor) or two defective genes (thalassemia major). Symptoms vary, but include anemia, jaundice, skin ulcers, gallstones, and an enlarged spleen.

 






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