Dehydrated hereditary stomatocytosis (DHS) is characterized by alterations of ionic flux with increased cation permeability. Although the clinical presentation of DHS is commonly variable, all of them present hemolysis and anemia, which may range from mild to severe. Like all hemolytic anemias, jaundice, pallor, fatigue, splenomegaly, and gallstones are the key signs. The causative genes have been identified on ABCG5, ABCG8, PIEZO1, SLC2A1, ABCB6, KCNN4, and RHAG. In this case study, we report an 11-year-old male patient who had jaundice, hepatosplenomegaly, and chronic mild congenital non-autoimmune hemolytic anemia. In our patient, a novel homozygous missense mutation in the PIEZO1 gene was detected using a gene-targeted Next-Generation Sequencing panel: c.3364G>A (p.Glu1122Lys), confirming the diagnosis of hereditary dehydrated stomatocytosis. The reason we want to report this case is the detection of a new mutation due to hereditary stomatocytosis, which is a rare disease. Also, due to the limited number of research centers in developing countries and lack of financial resources, it is late to be diagnosed with rare diseases.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder due to mutations in the TYMP gene. Clinical findings are characterized by neurologic manifestations and severe gastrointestinal dysfunction. The syndrome is usually fatal, the most effective treatment appears to be hematopoietic stem cell transplantation (HSCT). Aim:In this retrospective study, we evaluated HSCT that was performed using a reduced toxicicity myeloablative conditioning regimen in patients with MNGIE at our center. Results: A total of 6 allogeneic transplant procedures were performed in 4 patients. Three patients’ donors had fully matched donors, and one patients’ donor was haploidentical. Treosulfan-based myeloablative conditioning regimen was applied in 5 of 6 transplants. Bone marrow was used as a stem cell source. One patient is being followed up in the 4th year of posttransplant with full chimeric and without Graft versus host disease (GVHD). One patient died of acute stage IV GIS GVHD. Two patients underwent second transplantation due to engraftment failure, one of which was the patient who had a haploidentical transplant. Conclusions: Treosulfan-based regimen is well tolerated. Engraftment failure with this conditioning regimen can be a significant problem. We share our haploidentical transplant experience, which will be the first reported case in the literature.

In this case study, we report an 11-year-old male patient who had jaundice, hepatosplenomegaly, and chronic mild congenital non-autoimmune hemolytic anemia. In our patient, a novel homozygous missense mutation in the PIEZO1 gene was detected using a gene-targeted Next-Generation Sequencing panel: c.3364G>A (p.Glu1122Lys), confirming the diagnosis of DHS.

Infant leukemias are rare in childhood leukemias and have poor prognostic features. Most infant leukemias are presented with MLL rearrangement at diagnosis. t (5; 15) has been reported very rarely in infant leukemias. In addition, the relationship between congenital anomalies and leukemia is controversial. Here we report a case with t (5; 15) (p15; q11.2) infant leukemia and ectrodactyly.