Beta-thalassemia - X-linked thrombocytopenia

General Information (adopted from Orphanet):

Synonyms, Signs: THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS
XLTT
Number of Symptoms 28
OrphanetNr: 231393
OMIM Id: 314050
ICD-10: D56.1
D69.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Beta-thalassemia with other manifestations
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000421) Epistaxis 85 / 7739
2
 (HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
3
 (HPO:0000967) Petechiae 26 / 7739
4
 (HPO:0000978) Bruising susceptibility 123 / 7739
5
 (HPO:0001007) Hirsutism rare [HPO:skoehler] 91 / 7739
6
 (HPO:0001873) Thrombocytopenia Very frequent [Orphanet] 224 / 7739
7
 (HPO:0001878) Hemolytic anemia variable [HPO:skoehler] 83 / 7739
8
 (HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
9
 (HPO:0011902) Abnormal hemoglobin Very frequent [Orphanet] 18 / 7739
10
 (HPO:0011869) Abnormal platelet function Very frequent [Orphanet] 12 / 7739
11
 (HPO:0001923) Reticulocytosis 28 / 7739
12
 (HPO:0003010) Prolonged bleeding time Very frequent [Orphanet] 88 / 7739
13
 (OMIM) Normal platelet aggregation studies 1 / 7739
14
 (OMIM) Imbalanced hemoglobin chain synthesis 1 / 7739
15
 (OMIM) Dyserythropoiesis in bone marrow (1 patient) 1 / 7739
16
 (OMIM) Decreased UROS activity (1 patient) 1 / 7739
17
 (OMIM) Elevated HbA(2) 1 / 7739
18
 (OMIM) Bone marrow biopsy shows increased numbers of normal to small megakaryocytes 1 / 7739
19
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
20
 (OMIM) Enlarged platelets 1 / 7739
21
 (OMIM) Mild reticulocytosis in carrier females 1 / 7739
22
 (OMIM) Photosensitivity bullous dermatitis (1 patient) 1 / 7739
23
 (OMIM) Decreased platelet function 1 / 7739
24
 (OMIM) Decreased number of small megakaryocytes (1 patient) 1 / 7739
25
 (OMIM) Increased alpha/beta globin ratio in reticulocytes 1 / 7739
26
 (OMIM) Low-normal platelet count in carrier females 1 / 7739
27
 (OMIM) Platelets have decreased alpha-granules 1 / 7739
28
 (OMIM) Elevated HbF 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) XLTT is an X-linked recessive hematologic disorder characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis (summary by Ciovacco et al., 2008 and Millikan et al., 2011).
Clinical Description OMIM Thompson et al. (1977) described an unusual family in which 4 and possibly 5 males in multiple generations had splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and unbalanced (hemo)globin chain synthesis resembling ...
Genotype-Phenotype Correlations OMIM In a 3-year-old boy with XLTT, anemia, and clinical features reminiscent of congenital erythropoietic porphyria, Phillips et al. (2007) identified a hemizygous mutation in the GATA1 gene (R216W; 305371.0010). The GATA1 gene regulates expression of UROS in developing ...
Molecular genetics OMIM Yu et al. (2002) identified an arg216-to-gln mutation in the N finger of GATA1 (R216Q; 305371.0006) in the family with X-linked thrombocytopenia with beta-thalassemia reported by Thompson et al. (1977).

Tubman et al. (2007) identified an ...