The GATA family of transcription factors, including the founding member, GATA-1, have an important role in gene regulation. GATA-1 is integral to successful hematopoiesis. A wide variety of mutations in GATA-1 affect its function, as well as its interaction with its cofactors (especially Friend of GATA) and the genes upon which GATA-1 acts. Here we review the known mutations, focusing on the specific alterations within the amino acid sequence, the resulting effect on hematopoietic development, and the clinical manifestations that result. Attention is also paid to the relationship between Trisomy 21, also known as Down syndrome, and the phenomenon of a truncated GATA-1, named GATA-1s. The evidence for specific interaction between GATA-1 and chromosome 21, which may explain the correlation between these two mutations, is briefly reviewed.
Osteonecrosis of the femoral head (ONFH) is a challenging diagnosis for the patient and treating surgeon. Though its cause is poorly understood, several methods of surgical treatment exist and are performed with variable success. Vascularized bone grafting is one such treatment that attempts to restore viable bone, structural support, and blood supply to the avascular portion of the femoral head. This review summarizes the various approaches to this technique that have been proposed and put into practice. The cost effectiveness of these procedures, both in time and resources, has been evaluated and found to be favorable. The use of revascularization procedures, along with the introduction of other potentiating factors, may signal an exciting future for this debilitating disease process.
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