Blue rubber bleb nevus syndrome (BRBNS) is a rare, severe, sporadically occurring disorder characterized by multiple venous malformations. The most common clinical presentation symptomatic anemia due to GI bleeding, both overt and occult. present study reports 15-year-old female with iron-deficiency refractory therapy. She underwent various unsuccessful investigations find the origin of anemia.

In myelodysplastic syndromes (MDS), complete remission rates of acute myelogenous leukemia (AML)-type chemotherapeutic regimens vary widely, ranging from 15% in patients with myelodysplasia after previous cytotoxic therapy to 61% in patients with refractory anemia with an excess of blasts in transformation without previous exposure to leukemogenic chemicals. The duration of remission is usually...

We report the case of a 40-year female who manifested late onset, pyridoxine-refractory X-linked sideroblastic anemia, heterozygous for the first described frameshift ALAS2 mutation, CD506-507 (-C). On presentation she had macrocytic anemia with severe iron overload.

Iron is essential for life because it is indispensable for several biological reactions, such as oxygen transport, DNA synthesis, and cell proliferation. Over the past few years, our understanding of iron metabolism and its regulation has changed dramatically. New disorders of iron metabolism have emerged, and the role of iron as a cofactor in other disorders has begun to be recognized. The stu...

The 2008 World Health Organization classification proposed a new entity in childhood myelodysplastic syndrome, refractory cytopenia of childhood. However, it is unclear whether this morphological classification reflects clinical outcomes. We retrospectively reviewed bone marrow morphology in 186 children (median age 8 years; range 1-16 years) who were enrolled in the prospective study and recei...

Twenty-one enzymatic activities and red cell glutathione content are compared in cord blood, dyserythropoietic disorders, normal subjects, and subjects with hemolytic syndromes and reticulocytosis approximating that of the newborn. The dyseryth ropoietic states are heterogeneous and include several hereditary disorders, “preleukemia” and overt leukemia, refractory anemia with and without marrow...

Erythropoiesis in response to erythropoietin (Epo) in myelodysplastic syndrome (MDS) in vitro and in vivo is severely impaired. We investigated the stimulative effect of c-kit ligand (KL) on the erythroid colony-forming abilities of bone marrow cells from 17 patients with MDS. The effects of normal donor-derived marrow were examined in comparison. Suppression of erythroid colony formation in MD...

Diamond-Blackfan anemia (DBA) is a rare congenital hypoplastic anemia characterized by severe normochromic-macrocytic anemia, reticulocytopenia, a decrease in the number or absence of bone marrow erythroid precursor cells, and normal megakaryocytic and granulocytic differentiation [1-4]. Herein we report the successful treatment of steroid-refractory DBA in a 10-month-old male using prednisolon...

ECENTLY we have had the opportunity to study a patient with a macrocytic anemia and megaloblastic bone marrow, who was refractory to parenteral therapy with vitamin B,2 and refined liver extract, but who responded to folic acid. This type of macrocytic anemia is rare, particularly in this country. Observations made in this case support the concept of a chemical interrelationship between liver e...