The syndrome is characterized by primary hypoparathyroidism, typical dysmorphic features and severe growth retardation. Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan.īackgorund: Sanjad-Sakati syndrome (SSS) is a rare autosomal recessive disease caused by a deletion mutation (155-166del) in exon 3 of the TBCE gene on chromosome 1q42-43. MCV from the standard complete blood count adds additional information beyond hemoglobin for targeted intervention.
Patients with microcytic anemia had the lowest hemoglobin levels, yet the best clinical outcomes among anemic patients. Demographic characteristics, comorbidities, and outcomes are dissimilar according to red cell size. Cardiac surgical patients are often anemic.
Anemic patients experienced longer ICU (27 versus 48 hours, p < 0.001) and postoperative hospital (6.1 versus 7.4 days, p < 0.001) length of stay than non-anemic patients. Patients with normocytic or macrocytic anemia had more renal failure (normocytic: odds ratio (OR) 1.9, macrocytic: OR 3.5), other complications (normocytic: OR 1.3, macrocytic: OR 2.2) and death (normocytic: OR 2.0, macrocytic: OR 6.2) than non-anemic patients patients with microcytic anemia had fewer reoperations (OR 0.35) and less postoperative atrial fibrillation (OR 0.50). Non-anemic patients (n = 2,041, 26%) received transfusions compared with 1,553 (66%) normocytic, 148 (68%) microcytic, and 97 (74%) macrocytic anemia patients. A total of 2,715 patients (26%) were anemic. Other outcomes were postoperative transfusion and intensive care unit (ICU) and postoperative hospital lengths of stay. Models for hospital complications were developed using multivariable logistic regression. Anemia was characterized as normocytic, microcytic, or macrocytic based on mean corpuscular volume (MCV). From January 2010 to January 2014, 10,589 patients underwent elective cardiac operations at Cleveland Clinic. This investigation focuses on red cell size and its association with patient characteristics and outcomes after cardiac operation. Better understanding of anemia requires characterization beyond this. Preoperative anemia, defined by hemoglobin level, is associated with elevated risk after cardiac operation. Preoperative Anemia in Cardiac Operation: Does Hemoglobin Tell the Whole Story?ĭai, Lu Mick, Stephanie L McCrae, Keith R Houghtaling, Penny L Sabik, Joseph F Blackstone, Eugene H Koch, Colleen G Copyright © 2016, American Association for the Advancement of Science. Our data further suggest that therapies that decrease heme synthesis (or facilitate heme export) could improve the red blood cell production of persons with DBA, del(5q) MDS, and perhaps other macrocytic anemias. Our studies demonstrate that erythropoiesis fails when heme exceeds globin. Consistent with these observations, treatment with 10 μM succinylacetone, a specific inhibitor of heme synthesis, improved the erythroid cell output of DBA and del(5q) MDS marrow cultures by 68 to 95% (P = 0.03 to 0.05), whereas the erythroid cell output of concurrent control marrow cultures decreased by 4 to 13%. The cells that can more rapidly and effectively export heme or can slow heme synthesis preferentially survive and appropriately mature. This results in insufficient globin protein, excess heme and excess reactive oxygen species in early erythroid precursors, and CFU-E (colony-forming unit-erythroid)/proerythroblast cell death. We show that globin translation initiates slowly, whereas heme synthesis proceeds normally. We cultured marrow cells from DBA (n = 3) and del(5q) MDS (n = 6) patients and determined how heme (a toxic chemical) and globin (a protein) are coordinated. Yang, Zhantao Keel, Siobán B Shimamura, Akiko Liu, Li Gerds, Aaron T Li, Henry Y Wood, Brent L Scott, Bart L Abkowitz, Janis Lĭiamond Blackfan anemia (DBA) and myelodysplastic syndrome (MDS) with isolated del(5q) are severe macrocytic anemias although both are associated with impaired ribosome assembly, why the anemia occurs is not known. Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome.
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