From :-
http://sickle.bwh.harvard.edu/thalover.htmlClinical Classification of the Alpha Thalassemia Alpha thalassemia has four manifestations, that correlate with the number of defective genes. Since the gene defect is almost invariably a loss of the gene, there are no "shades of function" to obscure the matter as occurs in beta thalassemia.
(i)
Silent carrier state. This is the one-gene deletion alpha thalassemia condition. People with this condition are hematologically normal. They are detected only by sophisticated laboratory methods.
(ii)
Mild alpha-thalassemia. These patients have lost two alpha globin genes.They have small red cells and a mild anemia. These people are usually asymptomatic. Often, physicians mistakenly diagnose people with mild alpha-thalassemia as having iron deficiency anemia. Iron therapy, of course, does not correct the anemia.
(iii)
Hemoglobin H disease. These patients have lost three alpha globin genes. The result is a severe anemia, with small, misshapen red cells and red cell fragments. These patients typically have enlarged spleens. Bony abnormalities particularly involving the cheeks and forehead are often striking. The bone marrow works at an extraordinary pace in an attempt to compensate for the anemia. As a result, the marrow cavity within the bones is stuffed with red cell precursors. These cells gradually cause the bone to "mold" and flair out. Patients with hemoglobin H disease also develop large spleens. The spleen has blood forming cells, the same as the bone marrow. These cells become hyperactive and overexpand, just as those of the bone marrow. The result is a spleen that is often ten-times larger than normal. Patients with hemoglobin H disease often are small and appear malnourished, despite good food intake. This feature results from the tremendous amount of energy that goes into the production of new red cells at an extremely accelerated pace. The constant burning of energy by these patients mimics intense aerobic exercise; exercise that goes on for every minute of every day.
(iv)
Hydrops fetalis. This condition results from the loss of all four alpha globin genes. The affected individual usually succumbs to the severe anemia and complications before birth.
Do you know which is the case with your mother?
-Narendra