Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the gene leading to X-linked sideroblastic anemia-a family study.

X-linked sideroblastic anemia (XLSA) (MIM 300752) is the most common genetic form of sideroblastic anemia, a heterogeneous group of disorders characterized by iron deposits in the mitochondria of erythroid precursors. It is due to mutations of the erythroid-specific enzyme , the first enzyme of the heme biosynthetic pathway. Herein, we report a novel 11-bp deletion in exon 11 leading to a frameshift in the C-terminal region of the gene with a non-functional longer polypeptide of 614 amino acids leading to a loss-of-function mutation manifested as an X-linked sideroblastic anemia phenotype.

Largest Serous Cystadenoma in the first Trimester treated Laparoscopically: A Case Report.

We report the first case of a giant serous cystadenoma approximately 7.5kg in weight in a 28-year old primigravida at 8 weeks of gestation which was successfully excised laparoscopically. Postoperatively, she had a quick recovery and she was discharged on post op day 3 with an intact pregnancy and no complications.