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. Author manuscript; available in PMC: 2009 Dec 31.
Published in final edited form as: Gene. 2008 Sep 30;427(1-2):1–6. doi: 10.1016/j.gene.2008.09.018

TABLE 1.

GENOTYPIC-PHENOTYPIC CORRELATIONS OF GATA-1 MUTATIONS

MUTATION NUMBER OF CASES CURRENTLY IDENTIFIED CLINICAL MANIFESTATION REFERENCE
XLT

  1. V205M

  2. G208R

  3. G208S

  4. D218G

  5. D218Y

  1. 1 family with 2 affected individuals

  2. 1 family with 1 affected individual

  3. 1 family with 4 affected individuals

  4. 1 family with 13 affected individuals

  5. 1 family with 7 affected individuals

  1. Severe macro-thrombocytopenia and dyserythropoietic anemia

  2. Severe macro-thrombocytopenia and dyserythropoietic anemia

  3. Macrothrombocytopenia and mild dyserythropoiesis without anemia

  4. Macrothrombocytopenia and mild dyserythropoiesis without anemia

  5. Severe macrothrombocytopenia, dyserythropoietic anemia, and early mortality

  1. Nichols et al.., 2000

  2. Del Vecchio et al., 2005

  3. Mehaffey et al.., 2001

  4. Freson et al., 2001

  5. Freson et al.., 2002
XLTT R216Q 4 families with at least 9 affected individuals# Macrothrombocytopenia, mild, hemolytic anemia with β decreased β chain production resembling mild β-thalassemia, splenomegaly Raskind. et al., 2000; Yu. et al.,2002; Balduini. et al., 2004 Hughan et al., 2005# Raskind unpublished.
XLTT/X-GPS* R216Q 1 known case caused by R216Q, total cases of all categories, unknown Variable, mild bleeding diathesis, thrombocytopenia and large, agranular, functionally abnormal platelets. Tubman et al., 2007
CEP R216W 1 known case caused by R216W, total cases of all categories, unknown Photosensitive bullous dermatosis, hypochromic, microcytic anemia, and thrombocytopenia, splenomegaly, hirsutism Phillips et al., 2007
TMD and DS-AMKL Somatic, splice mutation in exon 2 of GATA-1, leading to the production of GATA-1s TMD: 10% of all DS cases DS-AMKL: 30% of TMD cases progress Hypercellular bone marrow with anemia, thrombocytopenia, and decreased leukocytes predisposing to bleeding disorders and infection Ahmed et al., 2004, Wechsler et al., 2002; Hitzler and Zipursky, 2005
Macrocytic anemia with variable neutropenia Inherited GATA-1 splice mutation 1 family with 7 affected individuals Macrocytic anemia, variable neutropenia, trilineage dysplasia in the bone marrow. infection, anemia, and platelet disorders Hollanda et al., 2006
#

A single affected male is described in this report with reference to other family members

*

Naming is currently in debate although this appears to be another family with XLTT and not a separate syndrome.