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Hemoglobin Trait

MedGen UID:
459439
•Concept ID:
C2987213
•
Disease or Syndrome

Definition

A condition in which a person is heterozygous for a globin gene, with a one normal allele and one defective allele. [from NCI]

Professional guidelines

PubMed

Evaluation of a point-of-care rapid diagnostic test kit (SICKLECHECK) for screening of sickle cell diseases.
Purohit P, Parida C, Martha TK, Bholo S, Naik A, Behera SK
PLoS One 2024;19(8):e0309045. Epub 2024 Aug 16 doi: 10.1371/journal.pone.0309045. PMID: 39150948Free PMC Article
Neonatal Screening for Sickle Cell Disease in Western Andalusia: Results and Lessons Learnt after 3 Years of Implementation.
Núñez-Jurado D, Payán-Pernía S, Álvarez-Ríos AI, Jiménez-Jambrina M, Concepcion Pérez-De-Soto I, José Palma-Vallellano A, Zapata-Bautista R, Carlos Hernández-Castellet J, Paz Garrastazul-Sánchez M, Arqueros-Martínez V, Urbano-Ramos MDM, Abdelkader-Maanan M, Raúl García-Lozano J, Delgado-Pecellín C
Am J Perinatol 2024 May;41(S 01):e893-e900. Epub 2022 Dec 29 doi: 10.1055/s-0042-1759646. PMID: 36580977
A fast hemoglobin variant on newborn screening is associated with alpha-thalassemia trait.
Miller ST, Desai N, Pass KA, Rao SP
Clin Pediatr (Phila) 1997 Feb;36(2):75-8. doi: 10.1177/000992289703600203. PMID: 9118593

Recent clinical studies

Etiology

Pattern of hemoglobinopathies and thalassemias in upper Assam region of North Eastern India: high performance liquid chromatography studies in 9000 patients.
Baruah MK, Saikia M, Baruah A
Indian J Pathol Microbiol 2014 Apr-Jun;57(2):236-43. doi: 10.4103/0377-4929.134680. PMID: 24943756
Genetic counseling following the detection of hemoglobinopathy trait on the newborn screen is well received, improves knowledge, and relieves anxiety.
Kladny B, Williams A, Gupta A, Gettig EA, Krishnamurti L
Genet Med 2011 Jul;13(7):658-61. doi: 10.1097/GIM.0b013e31821435f7. PMID: 21546841
Blood pressure and other cardiovascular disease risk factors in black adults with sickle cell trait or glucose-6-phosphate dehydrogenase deficiency.
Nwankwo MU, Bunker CH, Ukoli FA, Omene JA, Freeman DT, Vergis EN, Yeh LL, Kuller LH
Genet Epidemiol 1990;7(3):211-8. doi: 10.1002/gepi.1370070305. PMID: 2369999
Newborn screening for hemoglobinopathies in Colorado. The first 10 years.
Githens JH, Lane PA, McCurdy RS, Houston ML, McKinna JD, Cole DM
Am J Dis Child 1990 Apr;144(4):466-70. doi: 10.1001/archpedi.1990.02150280088018. PMID: 2321611

Diagnosis

Pattern of hemoglobinopathies and thalassemias in upper Assam region of North Eastern India: high performance liquid chromatography studies in 9000 patients.
Baruah MK, Saikia M, Baruah A
Indian J Pathol Microbiol 2014 Apr-Jun;57(2):236-43. doi: 10.4103/0377-4929.134680. PMID: 24943756
Genetic counseling following the detection of hemoglobinopathy trait on the newborn screen is well received, improves knowledge, and relieves anxiety.
Kladny B, Williams A, Gupta A, Gettig EA, Krishnamurti L
Genet Med 2011 Jul;13(7):658-61. doi: 10.1097/GIM.0b013e31821435f7. PMID: 21546841
Newborn screening for hemoglobinopathies in Colorado. The first 10 years.
Githens JH, Lane PA, McCurdy RS, Houston ML, McKinna JD, Cole DM
Am J Dis Child 1990 Apr;144(4):466-70. doi: 10.1001/archpedi.1990.02150280088018. PMID: 2321611
Sickle cell trait/hereditary persistence of fetal hemoglobin trait. Misdiagnosis as sickle cell anemia by newborn screening.
Rubin EM, Rowley PT
Am J Dis Child 1979 Dec;133(12):1248-50. doi: 10.1001/archpedi.1979.02130120040007. PMID: 517474

Prognosis

Pattern of hemoglobinopathies and thalassemias in upper Assam region of North Eastern India: high performance liquid chromatography studies in 9000 patients.
Baruah MK, Saikia M, Baruah A
Indian J Pathol Microbiol 2014 Apr-Jun;57(2):236-43. doi: 10.4103/0377-4929.134680. PMID: 24943756
Genetic counseling following the detection of hemoglobinopathy trait on the newborn screen is well received, improves knowledge, and relieves anxiety.
Kladny B, Williams A, Gupta A, Gettig EA, Krishnamurti L
Genet Med 2011 Jul;13(7):658-61. doi: 10.1097/GIM.0b013e31821435f7. PMID: 21546841

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