Living with X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
A rare inherited blood condition with moderate to severe anemia, low neutrophils, and platelets that don't work well.
Understanding X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
Red blood cells form abnormally, causing moderate to severe anemia, but platelet counts are not low. Neutrophils, a kind of white blood cell, are low to varying degrees. Bone marrow tests show changes in several blood cell lines. It can start at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Anemia with large red blood cells
- Low neutrophil count
- Platelets that clump poorly
- Red blood cells of unequal size and shape
- Low bone marrow cell numbers
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 GATA1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
This condition is caused by changes in the GATA1 gene and follows X-linked inheritance.
Also known as: anemia, x-linked, with or without neutropenia and/or platelet abnormalities; anemia, x-linked, with/without neutropenia and/or platelet abnormalities, x-linked recessive
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked dyserythropoietic anemia with abnormal platelets and neutropenia.
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