Autosomal dominant hereditary macrothrombocytopenia in an Iranianfamily
2007
Objective: Thrombocytopenia is the most common hemostatic disease of
the newborn. Inherited giant platelet syndromes are a heterogeneous
group of rare bleeding disorders. In this paper we describe here a
female neonate with autosomal dominant hereditary
macrothrombocytopenia. Case report: A female neonate was referred to
our center due to mucosal hemorrhage (nasal and gastrointestinal
bleeding). Her mother's platelet count was normal. However her father,
paternal uncle and two paternal aunts also had severe thrombocytopenia
and all of them underwent splenectomy for idiopathic thrombocytopenic
purpura (ITP). Considering all clinical and laboratory findings,
autosomal dominant hereditary macrothrombocytopenia was the best
diagnosis. Conclusion: It is important to differentiate between
congenital and acquired thrombocytopenia to avoid unneeded and
potentially harmful therapy. Treatment is not usually necessary,
however some patients with hereditary thrombocytopenia may benefit from
bone marrow transplantation.
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