Living with Sickle cell-beta-thalassemia
A type of sickle cell disease that affects the hemoglobin in red blood cells, causing anemia, infections and pain episodes.
Understanding Sickle cell-beta-thalassemia
People have one gene change that makes red blood cells sickle-shaped and another that lowers hemoglobin production (beta thalassemia). The sickle-shaped cells break down early and can get stuck in blood vessels. Features may include anemia (low red blood cells), repeated infections and frequent pain episodes. They usually develop in early childhood and vary in severity with how much normal hemoglobin is made.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features include:
- Anemia (low red blood cells)
- Repeated infections
- Frequent episodes of pain
- Sickle-shaped red blood cells
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Cooley's Anemia Foundation and Sickle Cell Disease Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Cooley's Anemia Foundation, Sickle Cell Disease Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Cooley's Anemia Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says a person has a different change in each copy of the HBB gene. One causes sickling and the other is linked to beta thalassemia. It is inherited in an autosomal recessive pattern.
Also known as: double heterozygous for hb s and beta thalassemia; hb s-beta thalassemia; hbs-beta-thalassemia syndrome; hemoglobin s beta-thalassemia; hemoglobin s/beta thalassemia; s-beta thalassemia
Patient organizations
- Cooley's Anemia FoundationSickle cell-beta-thalassemia · United States
- Sickle Cell Disease Association of AmericaSickle cell-beta-thalassemia · United States
- Sickle Cell Disease FoundationSickle cell-beta-thalassemia · United States
- Sickle Cell ConsortiumSickle cell-beta-thalassemia · United States
- Sickle Cell Information CenterSickle cell-beta-thalassemia · United States
You are more than your diagnosis
Perspectives from people navigating life with Sickle cell-beta-thalassemia.
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