Condition group
Inherited red blood cell disorders
Inherited red blood cell disorders are conditions carried in the genes that change how red blood cells are shaped or how long they last. The library has guides to 5 of them, including sickle cell disease, beta thalassemia major (transfusion-dependent) and pyruvate kinase deficiency. Of these 5, alpha thalassemia major (Hb Bart’s hydrops fetalis) has a donor transplant as an established option for selected patients, 2 have cell or gene therapies that may be options for eligible patients in some countries and 2 are usually treated without a transplant.
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Start with the name you were given
Diagnosis guides for inherited red blood cell disorders
Some diagnoses cover several subtypes. These guides explain how they fit together.
5 conditions compared
Who do inherited red blood cell disorders affect, and where does transplant fit?
| Condition | Who it affects | How it is passed on | Where transplant fits |
|---|---|---|---|
| Donor transplant option1 condition | |||
| Alpha thalassemia major (Hb Bart’s hydrops fetalis)A baby with alpha thalassemia major has no working alpha-globin genes, so the blood cannot carry oxygen well, even before birth. | Affects babies before birth when both parents carry two missing alpha-globin genes on the same chromosome. Alpha thalassemia is especially common in Southeast Asia and also occurs in people from Mediterranean countries, Africa, the Middle East, India and Central Asia. | Autosomal recessive | A stem cell transplant from a matched brother or sister or an unrelated donor may cure it. No gene therapy is approved for alpha thalassemia yet. |
| Cell or gene therapy options2 conditions | |||
| Beta thalassemia major (transfusion-dependent)Transfusion-dependent beta thalassemia is an inherited condition that can cause severe anemia. The body makes too little of one part of hemoglobin. | Severe beta-thalassemia often becomes evident in early childhood. Transfusion dependence describes clinical need and is not the same as beta-thalassemia carrier status. | Autosomal recessive | For selected people, a transplant from a matched sibling or unrelated donor may end the need for transfusions. In some countries, gene therapy using a person's own cells may do the same for selected people. |
| Sickle cell diseaseSickle cell disease is a group of inherited conditions. In these conditions, hemoglobin can make red blood cells less flexible, leading to anemia, pain and organ damage. | An inherited group of hemoglobin disorders affecting people worldwide. Genotype and individual course matter; sickle trait is distinct from sickle cell disease. | Autosomal recessive | For selected people, a transplant from a family or unrelated donor can change the disease course. In some countries, gene therapy using a person's own cells can do the same for selected people. Both have serious risks. |
| Limited transplant role2 conditions | |||
| Congenital dyserythropoietic anemia (CDA)Congenital dyserythropoietic anemia (CDA) is a group of rare inherited conditions. Red blood cells do not develop normally in the bone marrow, so there are too few healthy ones. | Rare; can be found before birth or not until adulthood. CDA type II, the most common form, usually shows in the teens or early adulthood; type I usually in childhood or adolescence; types III and IV earlier in life. | More than one pattern | A donor stem cell transplant is the only cure. It is used for only a few people with severe anemia who need regular transfusions. |
| Pyruvate kinase deficiencyPyruvate kinase deficiency is an inherited condition that causes anemia. Red blood cells lack energy and break down too early. | An inherited red-cell disorder that can present from infancy through adulthood, with a wide range of severity. | Autosomal recessive | A transplant from a related or unrelated donor is not the usual treatment. It is a rare option for selected people with severe disease. |
Treatment depends on the exact diagnosis, disease stage, prior treatment and the person’s health.
Ways to help
Understanding can become action.
Some patients need a blood stem cell donor. Others receive different treatment. Wherever your interest began, you can help more people find the donor they need.
Join the registry
JBF points you to the official registry that serves your country. It explains who can join and what donation involves.
Help someone you love find a donor
If someone you love needs a donor, our family guide explains practical ways to help. A registration drive can add many potential donors at once, for them and for others.
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Gifts to the Jada Bascom Foundation support donor-awareness education like this page, community outreach, drive planning and referrals to official registries.
