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GATA-1-related thrombocytopenia with dyserythropoiesis(XLTDA)

MedGen UID:
763703
Concept ID:
C3550789
Disease or Syndrome
Synonyms: GATA1-Related X-Linked Cytopenia; THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
X-linked recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): GATA1 (Xp11.23)
OMIM®: 300367

Disease characteristics

Excerpted from the GeneReview: GATA1-Related X-Linked Cytopenia
GATA1-related cytopenia is characterized by thrombocytopenia and/or anemia ranging from mild to severe. One or more of the following may also be present: platelet dysfunction, mild β-thalassemia, neutropenia, and congenital erythropoietic porphyria (CEP) in males. Thrombocytopenia typically presents in infancy as a bleeding disorder with easy bruising and mucosal bleeding (e.g., epistaxis). Anemia ranges from minimal (mild dyserythropoiesis) to severe (hydrops fetalis requiring in utero transfusion). At the extreme end of the clinical spectrum, severe hemorrhage and/or erythrocyte transfusion dependence are life long; at the milder end, anemia and the risk for bleeding may decrease spontaneously with age. Heterozygous females may have mild to moderate symptoms such as menorrhagia. [from GeneReviews]
Authors:
Stella T Chou  |  Melissa A Kacena  |  Mitchell J Weiss, et. al.   view full author information

Additional descriptions

From OMIM
XLTDA is an X-linked recessive hematologic disorder characterized by thrombocytopenia and abnormal platelet morphology and function due to defective platelet maturation. Some patients have a variable severity of dyserythropoietic anemia (summary by Millikan et al., 2011).  http://www.omim.org/entry/300367
From GHR
Dyserythropoietic anemia and thrombocytopenia is a condition that affects blood cells and primarily occurs in males. A main feature of this condition is a type of anemia called dyserythropoietic anemia, which is characterized by a shortage of red blood cells. The term "dyserythropoietic" refers to the abnormal red blood cell formation that occurs in this condition. In affected individuals, immature red blood cells are unusually shaped and cannot develop into functional mature cells, leading to a shortage of healthy red blood cells. People with dyserythropoietic anemia and thrombocytopenia can have another blood disorder characterized by a reduced level of circulating platelets (thrombocytopenia). Platelets are cell fragments that normally assist with blood clotting. Thrombocytopenia can cause easy bruising and abnormal bleeding. While people with dyserythropoietic anemia and thrombocytopenia can have signs and symptoms of both blood disorders, some are primarily affected by anemia, while others are more affected by thrombocytopenia.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 such as excess iron in the blood. 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 people with dyserythropoietic anemia and thrombocytopenia 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. People with congenital erythropoietic porphyria are also very sensitive to sunlight, and areas of skin exposed to the sun can become fragile and blistered.  https://ghr.nlm.nih.gov/condition/dyserythropoietic-anemia-and-thrombocytopenia

Clinical features

From HPO
Petechiae
MedGen UID:
10680
Concept ID:
C0031256
Disease or Syndrome
A group of small reddish or purplish spots in skin or mucous membrane as a result of localized hemorrhage.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Bleeding from the nose.
Petechiae
MedGen UID:
10680
Concept ID:
C0031256
Disease or Syndrome
A group of small reddish or purplish spots in skin or mucous membrane as a result of localized hemorrhage.
Poikilocytosis
MedGen UID:
67451
Concept ID:
C0221281
Finding
An increase in the number of abnormally shaped red blood cells.
Congenital thrombocytopenia
MedGen UID:
124422
Concept ID:
C0272278
Disease or Syndrome
Thrombocytopenia with congenital onset.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Anemia of inadequate production
MedGen UID:
195703
Concept ID:
C0678199
Disease or Syndrome
A kind of anemia characterized by inadequate production of erythrocytes.
Acanthocytosis
MedGen UID:
195801
Concept ID:
C0687751
Disease or Syndrome
Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.
Persistent bleeding after trauma
MedGen UID:
375403
Concept ID:
C1844374
Finding
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Bleeding from the nose.
Petechiae
MedGen UID:
10680
Concept ID:
C0031256
Disease or Syndrome
A group of small reddish or purplish spots in skin or mucous membrane as a result of localized hemorrhage.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.

Recent clinical studies

Etiology

Reihani N, Arlet JB, Dussiot M, de Villemeur TB, Belmatoug N, Rose C, Colin-Aronovicz Y, Hermine O, Le Van Kim C, Franco M
Haematologica 2016 Dec;101(12):1489-1498. Epub 2016 Jul 28 doi: 10.3324/haematol.2016.147546. PMID: 27470603Free PMC Article
Wanitpongpun C, Teawtrakul N, Mahakkanukrauh A, Siritunyaporn S, Sirijerachai C, Chansung K
Clin Exp Rheumatol 2012 Nov-Dec;30(6):825-9. Epub 2012 Dec 17 PMID: 23101438
Xubo G, Xingguo L, Xianguo W, Rongzhen X, Xibin X, Lin W, Lei Z, Xiaohong Z, Genbo X, Xiaoying Z
Eur J Haematol 2009 Oct;83(4):292-301. Epub 2009 Jun 2 doi: 10.1111/j.1600-0609.2009.01283.x. PMID: 19500135
Tamary H, Yaniv I, Stein J, Dgany O, Shalev Z, Shechter T, Resnitzky P, Shaft D, Zoldan M, Kornreich L, Levy R, Cohen A, Moser RA, Kapelushnik J, Shalev H
Eur J Haematol 2003 Sep;71(3):196-203. doi: 10.1034/j.1600-0609.2003.00126.x. PMID: 12930321
Kini J, Khadilkar UN, Dayal JP
Indian J Pathol Microbiol 2001 Jan;44(1):9-12. PMID: 12561987

Diagnosis

Akel T, Mobarakai N
Ann Clin Microbiol Antimicrob 2017 Feb 15;16(1):6. doi: 10.1186/s12941-017-0179-z. PMID: 28202022Free PMC Article
Kawai N, Matsuda A, Jinnai I, Ichimura T, Kayano H, Okamura D, Ishikawa M, Maeda T, Hata T, Miyazaki Y, Asou N, Bessho M, Tomonaga M
Int J Hematol 2016 Feb;103(2):227-33. Epub 2015 Nov 25 doi: 10.1007/s12185-015-1916-8. PMID: 26608365
Ryder J, Wang X, Bao L, Gross SA, Hua F, Irons RD
Int J Hematol 2007 Jan;85(1):18-25. doi: 10.1532/IJH97.A10612. PMID: 17261497
Lu PL, Hsiao HH, Tsai JJ, Chen TC, Feng MC, Chen TP, Lin SF
Kaohsiung J Med Sci 2005 Jan;21(1):34-9. doi: 10.1016/S1607-551X(09)70274-8. PMID: 15754587
Lillicrap DP, Corbett WE, Giles AR, Ginsburg AD
Arch Pathol Lab Med 1987 Jun;111(6):536-9. PMID: 3579510

Therapy

Wanitpongpun C, Teawtrakul N, Mahakkanukrauh A, Siritunyaporn S, Sirijerachai C, Chansung K
Clin Exp Rheumatol 2012 Nov-Dec;30(6):825-9. Epub 2012 Dec 17 PMID: 23101438
Lesesve JF, Salignac S, Lecompte T, Bordigoni P
Bone Marrow Transplant 2004 Aug;34(4):357-62. doi: 10.1038/sj.bmt.1704601. PMID: 15220961
Vial T, Grignon M, Daumont M, Guy C, Zenut M, Germain ML, Jaubert J, Ruivard M, Guyotat D, Descotes J
Eur J Haematol 2004 May;72(5):358-60. doi: 10.1111/j.1600-0609.2004.00217.x. PMID: 15059072
Inoue T, Cronkite EP, Hirabayashi Y, Bullis JE Jr, Mitsui H, Umemura T
Leukemia 1997 Apr;11 Suppl 3:123-7. PMID: 9209318
Harris CE, Biggs JC, Concannon AJ, Dodds AJ
Pathology 1990 Oct;22(4):206-11. doi: 10.3109/00313029009086664. PMID: 2091004

Prognosis

Akel T, Mobarakai N
Ann Clin Microbiol Antimicrob 2017 Feb 15;16(1):6. doi: 10.1186/s12941-017-0179-z. PMID: 28202022Free PMC Article
Wanitpongpun C, Teawtrakul N, Mahakkanukrauh A, Siritunyaporn S, Sirijerachai C, Chansung K
Clin Exp Rheumatol 2012 Nov-Dec;30(6):825-9. Epub 2012 Dec 17 PMID: 23101438
Ryder J, Wang X, Bao L, Gross SA, Hua F, Irons RD
Int J Hematol 2007 Jan;85(1):18-25. doi: 10.1532/IJH97.A10612. PMID: 17261497
Lu PL, Hsiao HH, Tsai JJ, Chen TC, Feng MC, Chen TP, Lin SF
Kaohsiung J Med Sci 2005 Jan;21(1):34-9. doi: 10.1016/S1607-551X(09)70274-8. PMID: 15754587
Kini J, Khadilkar UN, Dayal JP
Indian J Pathol Microbiol 2001 Jan;44(1):9-12. PMID: 12561987

Clinical prediction guides

Kawai N, Matsuda A, Jinnai I, Ichimura T, Kayano H, Okamura D, Ishikawa M, Maeda T, Hata T, Miyazaki Y, Asou N, Bessho M, Tomonaga M
Int J Hematol 2016 Feb;103(2):227-33. Epub 2015 Nov 25 doi: 10.1007/s12185-015-1916-8. PMID: 26608365
Wanitpongpun C, Teawtrakul N, Mahakkanukrauh A, Siritunyaporn S, Sirijerachai C, Chansung K
Clin Exp Rheumatol 2012 Nov-Dec;30(6):825-9. Epub 2012 Dec 17 PMID: 23101438
Xubo G, Xingguo L, Xianguo W, Rongzhen X, Xibin X, Lin W, Lei Z, Xiaohong Z, Genbo X, Xiaoying Z
Eur J Haematol 2009 Oct;83(4):292-301. Epub 2009 Jun 2 doi: 10.1111/j.1600-0609.2009.01283.x. PMID: 19500135
Balduini CL, Pecci A, Loffredo G, Izzo P, Noris P, Grosso M, Bergamaschi G, Rosti V, Magrini U, Ceresa IF, Conti V, Poggi V, Savoia A
Thromb Haemost 2004 Jan;91(1):129-40. doi: 10.1160/TH03-05-0290. PMID: 14691578
Kini J, Khadilkar UN, Dayal JP
Indian J Pathol Microbiol 2001 Jan;44(1):9-12. PMID: 12561987

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