<unk>  is primarily inherited in an autosomal recessive manner. The gene that is mutated in<unk>  has been mapped to chromosome 3p and identified as NBEAL2. The location is 3p21.31. This is caused by a homozygous or compound heterozygous mutations in the NBEAL2 gene. NBEAL2 encodes a protein containing a BEACH domain that is predicted to be involved in vesicular trafficking. It is expressed in platelets and megakaryocytes and is required for the development of platelet alpha-granules. NBEAL2 expression is also required for the development of thrombocytes in zebrafish. In Japan,<unk>  was found in 24 affected patients in a single family. There was at least 1 instance of male-to-male transmission, consistent with autosomal dominant inheritance. A study reported of 14 families with<unk> , 11 families had clear autosomal recessive inheritance. This was evidenced by consanguinity or multiple affected siblings with unaffected parents. The families had various backgrounds, including Bedouin, Turkish, Mennonite, French, German, Somali, African American, and mixed Northern and Southern European.<unk>  is characterized by "thrombocytopenia, and abnormally large agranular platelets in peripheral blood smears." The defect in<unk>  is the failure of megakaryocytes to package secretory proteins into alpha-granules. Patients with the<unk>  are affected by mild to moderate bleeding tendencies. Usually these are not major bleeds but there has been some life-threatening cases. Affected women will tend to have heavy, irregular periods. Myelofibrosis is a condition that usually comes with<unk> .
Gray platelet syndrome
Harris platelet syndrome
Quebec platelet disorder
Sticky platelet syndrome
Pseudo gray platelet syndrome
Glanzmann's thrombasthenia
COAT platelet defect
Bernard–Soulier syndrome