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Thalassemia

Inherited hemoglobin disorders with impaired globin chain synthesis

Written by: Saygı Hospital Health Guide Editorial Board
Published:

This content is for general information; please consult your physician for diagnosis and treatment.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Hematoloji department. Book Appointment →

What is Thalassemia?

Thalassemia is a genetically inherited quantitative defect in globin chain synthesis. α-thalassemia results from α-globin gene deletions on chromosome 16; β-thalassemia results from β-globin gene mutations on chromosome 11.

α-thalassemia syndromes: silent carrier (1 gene deletion), α-thalassemia trait (2 deletions), HbH disease (3 deletions — chronic hemolytic anemia), and hydrops fetalis with Hb Bart (4 deletions — usually fatal in utero).

β-thalassemia syndromes: β-thalassemia trait (heterozygous, mild anemia), β-thalassemia intermedia (variable severity, non-transfusion-dependent), and β-thalassemia major (Cooley anemia, transfusion-dependent from infancy).

Complications of transfusion-dependent thalassemia include iron overload (cardiac, hepatic, endocrine), osteoporosis, splenomegaly, growth failure, and infections. Prenatal screening, genetic counseling, and preimplantation genetic diagnosis are prevention strategies.

Symptoms

Microcytic hypochromic anemia with reticulocyte elevation
Jaundice, hepatosplenomegaly, skeletal deformities from extramedullary hematopoiesis (transfusion-dependent)
Growth retardation, delayed puberty, and failure to thrive in children
Fatigue, pallor, dyspnea on exertion, exercise intolerance
Iron overload manifestations: cardiomyopathy, diabetes, hypothyroidism, hypogonadism, liver fibrosis
Leg ulcers, gallstones, pulmonary hypertension in β-thalassemia intermedia

Risk Factors

Autosomal recessive inheritance — both parents carriers
Ancestry from Mediterranean, Middle Eastern, South and Southeast Asian, or African populations
Consanguineous marriages
Family history of thalassemia
Co-inheritance with other hemoglobinopathies (HbE, HbS) affects severity
Iron overload severity modified by transfusion frequency, hepcidin, and genetic modifiers

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Persistent microcytic anemia unexplained by iron deficiency, failure to thrive in children, or jaundice with hepatosplenomegaly warrants hemoglobin electrophoresis and hematology referral.
  • Individuals of at-risk ancestry planning pregnancy or with family history of thalassemia should seek preconception carrier screening and genetic counseling.
  • Transfusion-dependent patients require regular multidisciplinary follow-up (hematology, cardiology, endocrinology, hepatology) with iron burden monitoring by MRI T2* and serum ferritin.

Treatment Methods

01
Transfusion therapy: regular transfusions targeting pre-transfusion Hb 9-10 g/dL for β-thalassemia major and severe intermedia; pathogen-reduced, leukoreduced, and extended phenotype-matched units.
02
Iron chelation: deferasirox (first-line oral), deferoxamine (subcutaneous), deferiprone (cardiac protection); initiated with serum ferritin >1000 ng/mL or after 10-20 transfusions.
03
Luspatercept: erythroid maturation agent reducing transfusion burden in β-thalassemia and non-transfusion-dependent thalassemia per BELIEVE trial.
04
Splenectomy for hypersplenism with increased transfusion requirements, with prior vaccination and post-splenectomy prophylaxis.
05
Curative options: allogeneic hematopoietic stem cell transplant (matched sibling donor, optimal in children); gene therapy — betibeglogene autotemcel (lovo-cel) and exagamglogene autotemcel (exa-cel) for eligible patients.
06
Comprehensive care: vaccination (pneumococcal, meningococcal, H. influenzae), folate supplementation, endocrine surveillance, bone health, cardiac and liver MRI, psychosocial support.

Which Department to Visit?

You can visit our Hematoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.