Additionally, a female patient with autoimmune hemolytic anemia, pure red cell aplasia, thrombocytopenia, short stature and MMA was found to carry the de novo recurrent p.(Pro714Leu) variant in STAT3. This variant affects the last nucleotide of exon 22 of STAT3. In silico tools predicted a 9.2% decrease in the efficiency of the adjacent donor site. This evidence concerns the gene STAT3 and Thrombocytopenia.