Forms of thalassemia
Adult hemoglobin consists of two alpha and two beta chains. Depending on which chain synthesis is impaired, alpha and beta thalassemia are distinguished, and the severity depends on the number of damaged genes received from the parents. One altered gene usually gives only laboratory abnormalities, two – a picture from moderate anemia to severe illness. Between extreme options, there is an intermediate form in which transfusions are required only occasionally.
- Carrier status (thalassemia minor) - no complaints
- Intermediate form - moderate anemia
- Thalassemia major - severe anemia from early childhood
- Alpha thalassemia with different numbers of affected genes
- Combinations with other hemoglobin disorders
How it manifests itself
Carriers most often find out about thalassemia by chance - during medical examination or preparation for pregnancy. In intermediate and severe forms, the consequences of chronic anemia and increased bone marrow function come to the fore: pallor with a yellowish tint, weakness, enlargement of the liver and spleen, and in children - stunted growth and changes in the bones of the skull and face. Chronic destruction of red blood cells increases the risk of gallstones.
- Pale with slight jaundice
- Weakness, poor exercise tolerance
- Enlarged liver and spleen
- Child's retardation in growth and development
- Deformation of the bones of the face and skull in severe form
- Tendency to form gallstones
Why you can’t treat with iron at random
In a general blood test, thalassemia is similar to iron deficiency anemia: the red blood cells are small and pale. But the reason is completely different - not a lack of iron, but a defect in hemoglobin synthesis. Taking iron supplements without a confirmed deficiency does not increase hemoglobin, but it promotes the accumulation of iron in the liver, heart and pancreas. Therefore, before prescribing treatment, ferritin must be checked, and if it is normal or elevated, you cannot continue taking iron.
- Small red blood cells occur in both iron deficiency and thalassemia
- Ferritin in thalassemia is normal or high
- Iron is prescribed only for confirmed deficiency
- Excess iron damages the heart and liver
- Ferritin control during any long-term iron supplementation
Diagnostics
They start with a general blood test: pay attention to the low average volume of red blood cells with a relatively preserved number. Iron stores are then assessed to separate thalassemia from iron deficiency. The confirmatory method is the study of hemoglobin fractions (electrophoresis or chromatography), which reveals characteristic changes. The final form is clarified by molecular genetic analysis. The family is recommended to examine relatives and consult a geneticist, especially when planning pregnancy.
- Complete blood count with erythrocyte indices
- Ferritin, serum iron
- Reticulocytes, bilirubin
- Electrophoresis of hemoglobin fractions
- DNA diagnostics of mutations
- Ultrasound of the liver, spleen and gallbladder
- Examination of parents and close relatives
Treatment and observation
Carriage status does not require treatment: it is enough to know about it, not take iron unless indicated, and tell your doctor when planning a pregnancy. In intermediate and severe forms, the basis is regular transfusions of red blood cells, and along with them, drugs that remove excess iron, since each transfusion adds it to the body. Additionally, folic acid is prescribed, and the spleen, heart and endocrine system are monitored. In some cases, bone marrow transplantation is discussed. The regimen is determined by a hematologist.
- If you are a carrier - only observation and informing doctors
- Regular red blood cell transfusions for severe cases
- Drugs that remove excess iron, as prescribed by a doctor
- Folic acid for persistent hemolysis
- Control of ferritin, heart function, liver and endocrine glands
- Vaccination and observation after removal of the spleen
- Genetic counseling for couples before pregnancy