1.
The first Chinese case of unstable Hemoglobin Santa Ana detected by capillary electrophoresis: a case report and literature review.
Du, L, Qin, D, Wang, J, Yao, C, Zhu, J, Guo, H, Yuan, T, Liang, J, Yin, A
Hematology (Amsterdam, Netherlands). 2022;(1):258-262
Abstract
Hemoglobin Santa Ana [β88(F4)Leu→Pro (CTG > CCG) HBB: c.266T > C] is an unstable hemoglobin variant characterized by a substitution of the amino acid leucine by proline at the 88th position of the β-globin chain. We for the first time identified this hemoglobin variant in a Chinese patient by capillary electrophoresis (CE). The proband was an 8-year-old boy with chronic anemia, brown urine and splenomegaly. He had been affected by moderate anemia, twice approaching a severe degree, that was attributed to infection. The CE result revealed an abnormal hemoglobin peak at electrophoretic zone 4 that correspond to the hemoglobin Santa Ana peak, and a CTG > CCG mutation at codon 88 of the β-globin gene was confirmed by DNA sequencing. To avoid misdiagnosis and genetic risks, a literature review of other unstable hemoglobins that migrate similarly to the hemoglobin Santa Ana was performed. Our findings indicate that hemoglobin Santa Ana can be clearly separated by CE, with accurate diagnosis depending on molecular analysis. This information will be useful for providing appropriate genetic counselling and for prenatal diagnosis.
2.
Successful management of anemia with sirolimus in blue rubber bleb nevus syndrome: case report and update.
Fernández Gil, M, López Serrano, P, García García, E
Revista espanola de enfermedades digestivas. 2019;(8):643-647
Abstract
Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder with characteristic skin hemangiomas and vascular malformations, mostly in the gastrointestinal (GI) tract. The GI lesions are mainly located in the stomach and small intestine, usually more than a hundred, leading to gastrointestinal bleeding and severe chronic anemia. Parenteral iron infusions and scheduled transfusions are frequently necessary. We describe the case of a 21-year-old male with anemia secondary to BRBNS, who becomes unresponsive to octreotide and shows an excellent response to sirolimus (SRL), dismissing the intravenous iron supplementations and being free of transfusions. During the treatment, the patient presents avascular hip necrosis, which is adequately treated with an injection of stem cells with complete recovery, and without the suspension of SRL. Two years later, adequate response persists with no other relevant side effects.
3.
Acute iron poisoning in adult female.
Skoczynska, A, Kwiecinska, D, Kielbinski, M, Lukaszewski, M
Human & experimental toxicology. 2007;(8):663-6
Abstract
We report a case of a 27-year-old female with anemia, treated with high dose oral and parenteral iron therapy (within 20 days, the patient received a total dose of 4 g Fe+2 orally and 700 mg Fe+2 iv and im), and developed clinical manifestations characteristic of acute iron poisoning. Initial gastrointestinal symptoms and hypotension were followed by signs of mitochondrial toxicity: high leucocytosis, shock, multi-organ failure and disseminated intravascular coagulation. We discuss the difficulties in diagnosing acute iron poisoning. The initial low total iron blood capacity and high ferritin level, as well as the typical sequence of symptoms, supported the diagnosis. The patient avoided fatal consequences, probably due to the administration of iron doses over an extended period of time. However, cumulative effects led to the apparent iron toxicity. After 2 weeks of treatment, the patient was discharged from hospital in good condition. Human & Experimental Toxicology (2007) 26, 663-666.