HomeGeneticsCondition5q minus syndrome
Back to Condition
5q minus syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

5q minus syndrome

5q minus syndrome is a type of myelodysplastic syndrome (MDS) characterized by a specific chromosomal deletion, leading to anemia and abnormal megakaryocyte development, with a lower risk of progressing to acute myeloid leukemia (AML) compared to other forms of MDS.

Overview

5q minus (5q-) syndrome is a type of bone marrow disorder called myelodysplastic syndrome (MDS). MDS comprises a group of conditions in which immature blood cells fail to develop normally, resulting in too many immature cells and too few normal mature blood cells. In 5q- syndrome, development of red blood cells is particularly affected, leading to a shortage of these cells (anemia). In addition, the red blood cells that are present are unusually large (macrocytic). Although many people with 5q- syndrome have no symptoms related to anemia, especially in the early stages of the condition, some affected individuals develop extreme tiredness (fatigue), weakness, and an abnormally pale appearance (pallor) as the condition worsens. Individuals with 5q- syndrome also have abnormal development of bone marrow cells called megakaryocytes, which produce platelets, the cells involved in blood clotting. A common finding in people with 5q- syndrome is abnormal cells described as hypolobated megakaryocytes. In addition, some individuals with 5q- syndrome have an excess of platelets, while others have normal numbers of platelets.

MDS is considered a slow-growing (chronic) blood cancer. It can progress to a fast-growing blood cancer called acute myeloid leukemia (AML). Progression to AML occurs less commonly in people with 5q- syndrome than in those with other forms of MDS.

Frequency

MDS affects nearly 1 in 20,000 people in the United States. It is thought that 5q- syndrome accounts for 15 percent of MDS cases. Unlike other forms of MDS, which occur more frequently in men than women, 5q- syndrome is more than twice as common in women.

Causes

5q- syndrome is caused by deletion of a region of DNA from the long (q) arm of chromosome 5. Most people with 5q- syndrome are missing a sequence of about 1.5 million DNA building blocks (base pairs), also written as 1.5 megabases (Mb). However, the size of the deleted region varies. This deletion occurs in immature blood cells during a person's lifetime and affects one of the two copies of chromosome 5 in each cell.

The commonly deleted region of DNA contains 40 genes, many of which play a critical role in blood cell formation. Research suggests that loss of multiple genes in this region contributes to the features of 5q- syndrome. Loss of the RPS14 gene leads to the problems with red blood cell development characteristic of 5q- syndrome, and loss of MIR145 or MIR146A contributes to the megakaryocyte and platelet abnormalities and may promote the overgrowth of immature cells. Scientists are still determining how the loss of other genes in the deleted region might be involved in the features of 5q- syndrome.

Associated Genes and Chromosome

  • MIR145
  • MIR146A
  • RPS14
  • chromosome 5

Inheritance

This condition is generally not inherited but arises from a somatic mutation in the body's cells that occurs after conception. Affected people typically have no history of the disorder in their family.

Other Names

  • 5q- syndrome
  • Chromosome 5q deletion syndrome
  • Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
  • Myelodysplastic syndrome with 5q deletion
  • Myelodysplastic syndrome with 5q deletion syndrome
  • Refractory macrocytic anemia due to 5q deletion

Frequently Asked Questions

The most common symptoms are related to anemia, including extreme tiredness (fatigue), weakness, and an abnormally pale appearance (pallor). Many people have no symptoms in the early stages. You should see a doctor if you experience persistent or worsening fatigue, shortness of breath, dizziness, or other signs of severe anemia that impact your daily life.
The primary treatment for anemia in 5q- minus syndrome often involves red blood cell transfusions to alleviate symptoms. A targeted therapy called lenalidomide is highly effective for many patients, as it can reduce the need for transfusions and improve blood counts by targeting the abnormal cells associated with the 5q- deletion. Other supportive care may also be provided.
Diagnosis involves a complete blood count (CBC) to identify macrocytic anemia (unusually large red blood cells). A bone marrow biopsy and aspiration are crucial to examine blood cell development. The definitive diagnosis relies on cytogenetic analysis (karyotyping) or FISH (fluorescence in situ hybridization) to detect the specific deletion on the long arm of chromosome 5 (5q-).
The risk of 5q- minus syndrome progressing to acute myeloid leukemia (AML) is lower compared to other forms of myelodysplastic syndrome (MDS). However, it is still a possibility. This risk is monitored through regular follow-up appointments, including periodic blood counts and repeat bone marrow evaluations, to detect any changes in blood cell development that might indicate progression.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

kontakt@hittavard.se

Ⓒ 2024. Alla rättigheter förbehålls av juxt ab

Sök
Om ossVillkor och policyVanliga frågorKontakta oss