The relationship between genetic abnormalities in alpha-thalassemia and the severity of anemia

  The hemoglobin of red blood cells is composed of two peptide chains, the alpha peptide chain and the beta peptide chain. The synthesis of the alpha peptide chain is controlled by four genes, two from the father and two from the mother. alpha thalassemia is a condition in which the synthesis of the alpha peptide chain is affected. Since the synthesis of the alpha peptide chain is controlled by 4 genes, when these genes are abnormal, it will lead to the affected synthesis of the alpha peptide chain and the development of alpha thalassemia. In alpha thalassemia, 1, 2, or 3 of the 4 genes that control alpha peptide chain synthesis can be abnormal, or even all 4 genes can be abnormal, resulting in affected alpha peptide chain synthesis.  In general: 1 gene abnormality In routine blood tests, the number of red blood cells and the amount of hemoglobin do not appear abnormal, and the affected person has no symptoms.  2 genetic abnormalities In routine blood tests, the red blood cell count is often elevated and higher than normal, while the hemoglobin, in some affected individuals, is below normal and mildly anemic, while in others it may be in the normal range but often at a low normal value. In other cases, the hemoglobin may be in the normal range, but is often at the low end of normal. In routine blood tests, a decrease in mean red blood cell volume and mean hemoglobin volume may be seen, and the red blood cells may appear small. These patients are also often asymptomatic. If there is mild anemia, no treatment is usually needed. However, do not work too hard during the day; pay attention to the prevention of infections, and treat them promptly if they are present, as sometimes infections, can aggravate the anemia.  3 genetic abnormalities A decrease in hemoglobin and anemia are seen in those affected. The degree of anemia varies greatly, with a few being mild, most being moderate, and others may be severe. In routine blood tests, a decrease in mean red blood cell volume, mean hemoglobin volume, and mean hemoglobin concentration is seen, resulting in microcytic hypochromic anemia. In children, anemia often appears after 1 week of age, and the face is seen to be pale, and if accompanied by jaundice, the face is seen to be yellowish in color. The spleen gradually increases in size and can be palpable in the left upper abdomen. Patients with moderate, severe anemia have poor endurance in general. Also children with moderate, severe anemia, can affect physical development.  In alpha thalassemia caused by 3 genetic abnormalities, if the hemoglobin is below 90g/L, blood transfusion is recommended to make the hemoglobin above 90g/L so that the patient has a better viability. However, it is important to pay attention to the increase of iron in the body after more transfusions, and the disease of the thalassemia itself. If necessary, iron removal therapy is required. If the anemia is more severe, after a certain age of the child, the spleen can be cut to make the degree of anemia relieved. However, it is important to know that some immunity related to the spleen will be reduced after the spleen is cut.  4 genetic abnormalities With 4 genetic abnormalities, the fetus is deprived of oxygen during pregnancy and is often stillborn, or dies shortly after birth.  Genetic testing for alpha thalassemia is now available at several medical facilities.