X-linked dyserythropoetic anemia with abnormal platelets and neutropenia(XLANP)

MedGen UID:: 763770
•Concept ID:: C3550856
•: Disease or Syndrome

Synonyms:	Anemia without thromobocytopenia, X-linked; ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES
Modes of inheritance:	X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: 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. See: This record X-linked recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	GATA1 (Xp11.23)

Monarch Initiative:	MONDO:0010444
OMIM®:	300835
Orphanet:	ORPHA363727

Definition

XLANP is an X-linked recessive hematologic disorder characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia. Some patients may have low platelets or platelet abnormalities. The severity is variable. Some patients have shown a favorable response to corticosteroid treatment (summary by Hollanda et al., 2006 and Sankaran et al., 2012). In some cases, the disorder may resemble Diamond-Blackfan anemia (see, e.g., DBA1; 105650) (Sankaran et al., 2012; Parrella et al., 2014; Klar et al., 2014). [from OMIM]

Clinical features

From HPO

Macrocytic anemia

MedGen UID:: 1920
•Concept ID:: C0002886
•: Disease or Syndrome

A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).

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Thrombocytopenia

MedGen UID:: 52737
•Concept ID:: C0040034
•: Disease or Syndrome

A reduction in the number of circulating thrombocytes.

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Anisocytosis

MedGen UID:: 66371
•Concept ID:: C0221278
•: Finding

Abnormally increased variability in the size of erythrocytes.

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Poikilocytosis

MedGen UID:: 67451
•Concept ID:: C0221281
•: Finding

The presence of abnormally shaped erythrocytes.

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Elliptocytosis

MedGen UID:: 98107
•Concept ID:: C0427480
•: Finding

The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.

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Bone marrow hypocellularity

MedGen UID:: 383749
•Concept ID:: C1855710
•: Finding

A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.

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Impaired platelet aggregation

MedGen UID:: 383786
•Concept ID:: C1855853
•: Finding

An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.

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Abnormal granulocytopoietic cell morphology