Document Detail


The Clinical and Laboratory Spectrum of Hb C [β6(A3)Glu→Lys, GAG>AAG] Disease.
MedLine Citation:
PMID:  23297836     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Newborn screening (NBS) provides early diagnosis of sickle hemoglobinopathies. After Hb S [β6(A3)Glu→Val, GAG>GTG], Hb C [β6(A3)Glu→Lys, GAG>AAG] is the most common hemoglobin (Hb) abnormality identified in the United States (1,2). Published data regarding children with Hb C disease are limited. This study was conducted to summarize a single institution's clinical and laboratory data for patients with Hb C disease, specifically homozygous Hb CC and its variants over a 10-year period. Forty-seven patients, whose mean age at diagnosis was 2.9 years (range 0.04 to 23 years), were identified. Twenty-nine had Hb CC and the remainder had compound heterozygous variants [10 Hb C/β(+)-thalassemia (β(+)-thal), four Hb C/β(0)-thal, and one each with Hb C/Hb Hope or β136(H14)Gly→Asp (GGT>GAT), Hb C/Hb Lepore (a hybrid δβ-globin gene), Hb C/HPFH (hereditary persistence of fetal Hb) [probably a (G)γ HPFH-2 (the Ghanaian type)], and Hb C/Osu-Christiansborg or β52(D3)Asp→Asn (GAT>AAT)]. All patients had mild microcytic anemia with reticulocytosis and frequent target cells on peripheral smear. Splenomegaly or cholelithiasis occurred in 2.6% of patients <8 years of age, however, these symptoms were more common (71.0%) in patients >8 years of age. No patient had serious infections or painful events resembling vasoocclusion. Accurate diagnosis and understanding of Hb C-related disorders helped to avoid confusion with sickle hemoglobinopathies and aided in proper clinical management.
Authors:
Cathleen M Cook; Matthew P Smeltzer; Nicole A Mortier; Susan E Kirk; Jenny M Despotovic; Russell E Ware; Jane S Hankins
Related Documents :
19452276 - Efficacy of gastric electrical stimulation in improving functional vomiting in patients...
1129466 - The diagnostic accuracy of barium studies of the stomach and duodenum--correlation with...
12836466 - The evaluation of voice in elderly patients.
9083226 - A model of gastric emptying using paracetamol absorption in intensive care patients.
19560556 - Pancreas and liver injury are associated in individuals with increased alcohol consumpt...
7778696 - Articular hypermobility and chondral injury in patients with acute patellar dislocation.
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Hemoglobin     Volume:  37     ISSN:  1532-432X     ISO Abbreviation:  Hemoglobin     Publication Date:  2013  
Date Detail:
Created Date:  2013-01-09     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7705865     Medline TA:  Hemoglobin     Country:  England    
Other Details:
Languages:  eng     Pagination:  16-25     Citation Subset:  IM    
Affiliation:
Department of Hematology, St. Jude Children's Research Hospital , Memphis, Tennessee , USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  The use of high frequency ultrasound imaging in skin moisturization measurement.
Next Document:  Spectrum of ?-thalassemia mutations in transfusion-dependent ?-thalassemia patients from the Eastern...