Hemoglobinopathies: Clinical Manifestations, Diagnosis, and Treatment

With approximately 7% of the worldwide population being carriers, hemoglobinopathies are the most common monogenic diseases and one of the world’s major health problems (1, 2, e1, e2). They were originally found mainly in the Mediterranean area and large parts of Asia and Africa (3). International migration has spread them from those areas all over the world. In many parts of Europe today, hemoglobin (Hb) defects are classified as endemic diseases (3) (table 1). Table 1 Prevalence of hemoglobinopathy gene carriers in the world’s population (1– 3, 6, e1, e2) Germany is one of the countries in which hemoglobinopathies have increased in recent years (4– 7). There are no epidemiological studies on their frequency. The following statements can be made regarding gene carriers: prevalence among the 9 million immigrants from countries with a high risk of hemoglobinopathies as a whole is 4.5%, giving a figure of 400 000 for the number of hemoglobinopathy gene carriers (6). The total number of patients diagnosed with these diseases in the author’s laboratory from 1970 to 2010 is 5831. This review article should be considered an extension of the original article “Hemoglobinopathies in Germany—a longitudinal study over four decades,” also published in Deutsches Arzteblatt International (6). It aims to provide a brief summary of the most important clinical pictures and indicate the features that can be used to identify those with these diseases with low-level symptoms, but not gene carriers in good health, in general practice (Tables 2, ​,3).3). Topical grounds for the publication of this article are the increase in the number of people affected, which has implications for care provision, and the fact that optimum treatment can give patients a steadily-increasing projected life span. As a result, medical treatment is becoming more and more part of adult medicine, rather than pediatrics alone. Table 2 Diagnoses, gene types, hematological findings, and cardinal symptoms of thalassemia syndromes (2, 4, 9) TABLE 3 Diagnoses, gene types, hematological findings, and cardinal symptoms of the main hemoglobin disorders (2, 3, 10, 13)