Living with Sickle cell-hemoglobin D disease
A rare genetic blood condition with the same features as sickle cell anemia, including pain episodes and organ complications.
Understanding Sickle cell-hemoglobin D disease
Its course is similar to sickle cell anemia. It includes sudden pain episodes, blocked blood vessels (vaso-occlusive crisis), and spleen problems. It can also cause acute chest syndrome, brain injury from poor blood flow, bone infection and bone damage from lack of blood flow.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features include:
- Sudden pain episodes
- Blocked blood vessels (vaso-occlusive crisis)
- Spleen problems
- Acute chest syndrome
- Bone infection or bone damage
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.
- 3Consider genetic testing
Changes in HBB are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
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: 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 Sickle Cell Disease Association of America 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 lists changes in the HBB gene: one sickle change plus a hemoglobin D change. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: double heterozygous for hb s + hb d punjab; hbs-hbd disease; hbsd disease; hemoglobin s-d disease; hemoglobin s/d punjab disease; hemoglobin sd
Patient organizations
- Sickle Cell Disease Association of AmericaSickle cell-hemoglobin D disease · United States
- Sickle Cell Disease FoundationSickle cell-hemoglobin D disease · United States
- Sickle Cell ConsortiumSickle cell-hemoglobin D disease · United States
You are more than your diagnosis
Perspectives from people navigating life with Sickle cell-hemoglobin D disease.
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