Living with Myelodysplastic syndrome associated with isolated del(5q)
A type of bone marrow disorder (5q- syndrome) that mainly causes a shortage of red blood cells.
Understanding Myelodysplastic syndrome associated with isolated del(5q)
In 5q- syndrome, red blood cell development is especially affected, leading to anemia, with red cells that are unusually large. Many people have no anemia symptoms early on. Later, some have extreme tiredness, weakness, and pale skin. Platelet levels may be high or normal. MDS is considered a slow-growing (chronic) blood cancer, and can progress to acute myeloid leukemia (AML), but this is less common with 5q- syndrome.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low red blood cells (macrocytic anemia)
- Extreme tiredness (fatigue)
- Weakness
- Pale skin (pallor)
- High platelet count (thrombocytosis)
- Changes in bone marrow 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 cancer specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Cancer specialists (oncologists)
- 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 Blood Cancer United 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 doesn't describe a cause for this condition yet.
Also known as: 5q minus syndrome; 5q- syndrome; 5q- syndrome, refractory macrocytic anaemia due to 5q deletion; 5q- syndrome, refractory macrocytic anemia due to 5q deletion; chromosome 5q deletion syndrome; macrocytic anemia, refractory, due to 5q deletion, somatic
Patient organizations
- Blood Cancer UnitedBlood or bone marrow disease · United States
- HealthTree FoundationBlood or bone marrow disease · United States
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