Hemoglobinopathies: clinical manifestations, diagnosis, and treatment

Abstract

Background: Hemoglobinopathies are among the most common inherited diseases around the world. They have become much more common recently in northern and central Europe, including Germany, due to immigration.

Method: Selective review of the literature with consideration of national guidelines.

Results: The hemoglobinopathies encompass all genetic diseases of hemoglobin. They fall into two main groups: thalassemia syndromes and structural hemoglobin variants (abnormal hemoglobins). α- and β-thalassemia are the main types of thalassemia; the main structural hemoglobin variants are HbS, HbE and HbC. There are many subtypes and combined types in each group. The highly variable clinical manifestations of the hemoglobinopathies range from mild hypochromic anemia to moderate hematological disease to severe, lifelong, transfusion-dependent anemia with multiorgan involvement. Stem-cell transplantation is the preferred treatment for the severe forms of thalassemia. Supportive, rather than curative, treatment consists of periodic blood transfusions for life, combined with iron chelation. Drugs to treat the symptoms of sickle-cell disease include analgesics, antibiotics, ACE inhibitors and hydroxyurea. Blood transfusions should be given only when strictly indicated. More than 90% of patients currently survive into adulthood. Optimally treated patients have a projected life span of 50 to 60 years.

Conclusion: Hemoglobinopathies are a public health issue in today's multiethnic German population. Adequate care of the affected patients requires a wide variety of diagnostic and therapeutic measures.

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Indications for DNA testing Hb abnormalities: To identify rare abnormalities; for clarification in the absence of electrophoretic or chromatographic separation; as part of genetic enquiries (families, partners, prenatal diagnosis); mixed forms of more than one hemoglobinopathy. Thalassemias: To determine the genetic type of β-thalassemia major; molecular diagnosis of β-thalassemia intermedia; mixed forms of hemoglobinopathy; suspected silent β-thalassemia gene carriers; diagnosis of α-thalassemias; as part of genetic enquiries (families, partners, prenatal diagnosis). RBC, red blood cell