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Blood and immune system diseases

Thalassemia

An inherited blood disease in which hemoglobin production is impaired, causing anemia. It is included in premarital screening in Türkiye.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Prepare an emergency card

This page is translated from the Turkish original.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

Thalassemia is a group of inherited blood diseases. In these diseases, the body cannot make enough hemoglobin (the substance that carries oxygen in the blood). This causes anemia. The two main kinds are alpha and beta thalassemia. There are different forms, ranging from carrier status to severe types.

Which symptoms can occur?

In severe types, symptoms often begin a few months after birth. In mild types, they appear later or may not appear at all.

  • Tiredness, weakness and paleness (common)
  • Shortness of breath and a pounding heartbeat (common if the anemia is severe)
  • Yellowing of the eyes and skin (sometimes)
  • Enlarged liver and spleen (sometimes)
  • Delayed growth and late puberty (in severe types)
  • Changes in bone shape or weak bones (sometimes)
  • Iron build-up from frequent blood transfusions; damage to the heart, liver and hormone glands (in severe types)

How is it diagnosed?

Thalassemia and carrier status are detected with blood tests. These tests can be done at any age. In some health systems, screening is done during pregnancy and in newborns.

Treatment and care

In severe types, regular blood transfusions are given. Frequent blood transfusions cause too much iron to build up in the body. Medicine that removes this iron from the body is also needed. For some people, a stem cell transplant may be considered, but it has risks. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

Thalassemia is inherited. If the mother and father are carriers, the chance that the child is affected is 1 in 4 in each pregnancy. Carriers often have no health problems. In alpha thalassemia, the risk depends on which genes are affected. Genetic counselling guides the family.

Source: NHS — Thalassaemia · MedlinePlus Genetics — Beta thalassemia · MedlinePlus Genetics — Alpha thalassemia

Key facts

Reliable sources
Orphanet

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

For all rare diseases: Nadir Hastalıklar Federasyonu

Links checked on October 8, 2026.

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Thalassemia

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 75 active interventional studies for this disease. 40 are recruiting now; 9 have sites in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Blood and immune system diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

International rare disease database: Orphanet · ICD-11 3A50

Codes checked against WHO ICD-11 and Orphanet on October 6, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.