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Genetics Home Reference: your guide to understanding genetic conditions
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Dyserythropoietic anemia and thrombocytopenia

Reviewed July 2010

What is dyserythropoietic anemia and thrombocytopenia?

Dyserythropoietic anemia and thrombocytopenia is a condition that affects blood cells and primarily occurs in males. Dyserythropoietic anemia is one of many types of anemia, a group of conditions characterized by a shortage of red blood cells. The term "dyserythropoietic" means abnormal red blood cell formation. In people with this condition, immature red blood cells are unusually shaped and cannot develop into functional mature cells, leading to a shortage of healthy red blood cells. Thrombocytopenia is a reduced level of circulating platelets, which are cell fragments that normally assist with blood clotting. Thrombocytopenia can cause easy bruising and abnormal bleeding. Some people with this condition are primarily affected by anemia, while in others thrombocytopenia is the major feature.

The most severe cases of dyserythropoietic anemia and thrombocytopenia are characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. For many others, the signs and symptoms of dyserythropoietic anemia and thrombocytopenia begin in infancy. People with this condition experience prolonged bleeding or bruising after minor trauma or even in the absence of injury (spontaneous bleeding). Anemia can cause pale skin, weakness, and fatigue. Severe anemia may create a need for frequent blood transfusions to replenish the supply of red blood cells; however, repeated blood transfusions over many years can cause health problems. People with dyserythropoietic anemia and thrombocytopenia may also have a shortage of white blood cells (neutropenia), which can make them prone to recurrent infections. Additionally, they may have an enlarged spleen (splenomegaly). The severity of these abnormalities varies among affected individuals.

Some affected individuals have additional blood disorders such as beta thalassemia or congenital erythropoietic porphyria. Beta thalassemia is a condition that reduces the production of hemoglobin, which is the iron-containing protein in red blood cells that carries oxygen. A decrease in hemoglobin can lead to a shortage of oxygen in cells and tissues throughout the body. Congenital erythropoietic porphyria is another disorder that impairs hemoglobin production. Affected individuals are also very sensitive to sunlight, and areas of skin exposed to the sun can become fragile and blistered.

How common is dyserythropoietic anemia and thrombocytopenia?

Dyserythropoietic anemia and thrombocytopenia is a rare condition; its prevalence is unknown. Occasionally, individuals with this disorder are mistakenly diagnosed as having more common blood disorders, making it even more difficult to determine how many people have dyserythropoietic anemia and thrombocytopenia.

What genes are related to dyserythropoietic anemia and thrombocytopenia?

Mutations in the GATA1 gene cause dyserythropoietic anemia and thrombocytopenia. The GATA1 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of many other genes. On the basis of this action, the GATA1 protein is known as a transcription factor. The GATA1 protein is involved in the specialization (differentiation) of immature blood cells. To function properly, these immature cells must differentiate into specific types of mature blood cells. Through its activity as a transcription factor and its interactions with other proteins, the GATA1 protein regulates the growth and division (proliferation) of immature red blood cells and platelet-precursor cells (megakaryocytes) and helps with their differentiation.

GATA1 gene mutations disrupt the protein's ability to bind with DNA or interact with other proteins. These impairments in the GATA1 protein's normal function leads to an increased proliferation of megakaryocytes that cannot perform the functions of mature platelets, leading to abnormal bleeding. An abnormal GATA1 protein causes immature red blood cells to undergo a form of programmed cell death called apoptosis. A lack of immature red blood cells results in decreased amounts of specialized, mature red blood cells, leading to anemia. The severity of dyserythropoietic anemia and thrombocytopenia can usually be predicted by the type of GATA1 gene mutation.

When dyserythropoietic anemia and thrombocytopenia occur separately, each of the conditions can result from many different factors. The occurrence of these two blood disorders together is characteristic of mutations in the GATA1 gene.

Related Gene(s)

Changes in this gene are associated with dyserythropoietic anemia and thrombocytopenia.

  • GATA1

How do people inherit dyserythropoietic anemia and thrombocytopenia?

This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. Because females have two copies of the X chromosome, one altered copy of the gene in each cell usually leads to less severe symptoms in females than in males or may cause no symptoms in females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

Where can I find information about diagnosis or management of dyserythropoietic anemia and thrombocytopenia?

These resources address the diagnosis or management of dyserythropoietic anemia and thrombocytopenia and may include treatment providers.

  • Gene Review: GATA1-Related X-Linked Cytopenia (http://www.ncbi.nlm.nih.gov/books/NBK1364)
  • Genetic Testing Registry: GATA-1-related thrombocytopenia with dyserythropoiesis (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1845837)

You might also find information on the diagnosis or management of dyserythropoietic anemia and thrombocytopenia in Educational resources (http://www.ghr.nlm.nih.gov/condition/dyserythropoietic-anemia-and-thrombocytopenia/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/dyserythropoietic-anemia-and-thrombocytopenia/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about dyserythropoietic anemia and thrombocytopenia?

You may find the following resources about dyserythropoietic anemia and thrombocytopenia helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for dyserythropoietic anemia and thrombocytopenia?

  • dyserythropoietic anemia with thrombocytopenia
  • GATA1-related cytopenia
  • GATA-1-related thrombocytopenia with dyserythropoiesis
  • GATA1-related X-linked cytopenia
  • X-linked macrothrombocytopenia

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about dyserythropoietic anemia and thrombocytopenia?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding dyserythropoietic anemia and thrombocytopenia?

anemia ; apoptosis ; blood clotting ; cell ; chromosome ; clotting ; congenital ; differentiation ; DNA ; enlarged spleen ; gene ; hemoglobin ; hydrops fetalis ; inheritance ; inherited ; injury ; iron ; mutation ; neutropenia ; oxygen ; platelets ; precursor ; prevalence ; proliferation ; protein ; red blood cell ; sex chromosomes ; splenomegaly ; spontaneous ; thalassemia ; thrombocytopenia ; transcription ; transcription factor ; trauma ; white blood cells

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Crispino JD. GATA1 in normal and malignant hematopoiesis. Semin Cell Dev Biol. 2005 Feb;16(1):137-47. Epub 2004 Dec 13. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15659348?dopt=Abstract)
  • Ferreira R, Ohneda K, Yamamoto M, Philipsen S. GATA1 function, a paradigm for transcription factors in hematopoiesis. Mol Cell Biol. 2005 Feb;25(4):1215-27. (http://www.ncbi.nlm.nih.gov/pubmed/15684376?dopt=Abstract)
  • Gene Review: GATA1-Related X-Linked Cytopenia (http://www.ncbi.nlm.nih.gov/books/NBK1364)
  • Splendore A, Magalhães IQ, Pombo-de-Oliveira MS. GATA1 mutations in myeloproliferative disorders: nomenclature standardization and review of the literature. Hum Mutat. 2005 Oct;26(4):390-2. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16134163?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2010
Published: September 29, 2014