Hemoglobinopathies (Hemoglobinoses)

They are a group of hereditary diseases associated with a violation of the structure or production of hemoglobin (see Blood, hematopoietic system). There are a large number of hemoglobin defects that correspond to the clinical manifestations of the disease. Many cities are limited to certain geographic areas.

They are found among residents of Africa, the Mediterranean coast, Southeast Asia, and the Pacific Islands. G. can be asymptomatic; sometimes anemia is a manifestation of the disease (see Anemia). Diagnosis of G. is carried out using special research methods, among which the main place is occupied by the study of the structure of red blood cells (erythrocytes) and hemoglobin.

There are thalassemia major, in which the clinical signs of the disease are most pronounced, and thalassemia minor. Patients with thalassemia experience progressive anemia, enlarged liver and spleen, yellowness of the skin, and impaired bone structure; the child is physically underdeveloped. Treatment of this type of G. is complex and is carried out under the constant supervision of a doctor. In this case, folic acid and vitamin B12 supplements are used, blood and red blood cell transfusions are performed, and sometimes the spleen is removed.

For patients with one of the types of G., so-called sickle cell anemia, staying in an atmosphere with low oxygen content is dangerous; There is a special test for “sickling”, which is mandatory before air travel for persons born in the geographical area of ​​distribution of this anomaly.

In geographic areas where G. spreads, their prevention is very important: since the most severe forms of the disease develop in cases where the disease is inherited from both parents, marriages between relatives are not recommended, and it is recommended to attend a medical genetic consultation before marriage.