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Journal of Genetic Counseling Oct 2021An estimated 7% of the world's population are carriers for a hemoglobin disorder. Current guidelines recommend carrier screening by complete blood count, with follow-up...
An estimated 7% of the world's population are carriers for a hemoglobin disorder. Current guidelines recommend carrier screening by complete blood count, with follow-up hemoglobin electrophoresis or fractionation based on abnormal result or ethnicity. Advances in molecular genetic testing are thought to increase carrier detection. This study compares carrier screening methodologies in a multi-ethnic sperm donor population. A retrospective analysis was conducted using data from a US sperm bank. All men underwent carrier screening for hemoglobin disorders via complete blood count, hemoglobin fractionation, and molecular testing. Results were compared using counts and percentages. McNemar's exact test was used to examine differences in the marginal probabilities of screening methodologies. Of the 438 tested, 25 (5.7%) were identified as carriers of at least one hemoglobin disorder by molecular testing. Seventeen (68%) of those carriers were missed by recommended methods. No identified carriers were detected by recommended methods but missed by molecular testing. The difference between these discordant pairs was significant (p-value < 0.001). The majority (44%) of carriers were mixed ethnicity, followed by 36% White. Results indicate that molecular screening methodologies have a greater ability to detect carriers of hemoglobin disorders compared to currently recommended methods in a multi-ethnic population.
Topics: Ethnicity; Genetic Carrier Screening; Hemoglobinopathies; Humans; Male; Retrospective Studies; Spermatozoa
PubMed: 33788337
DOI: 10.1002/jgc4.1406 -
Annual Review of Genomics and Human... Aug 2018Hemoglobinopathies are the most common single-gene disorders in the world. Their prevalence is predicted to increase in the future, and low-income... (Review)
Review
Hemoglobinopathies are the most common single-gene disorders in the world. Their prevalence is predicted to increase in the future, and low-income hemoglobinopathy-endemic regions need to manage most of the world's affected persons. International organizations, governments, and other stakeholders have initiated national or regional prevention programs in both endemic and nonendemic countries by performing population screening for α- and β-thalassemia, HbE disease, and sickle cell disease in neonates, adolescents, reproductive-age adults (preconceptionally or in the early antenatal period), and family members of diagnosed cases. The main aim of screening is to reduce the number of affected births and, in the case of sickle cell disease, reduce childhood morbidity and mortality. Screening strategies vary depending on the population group, but a few common screening test methods are universally used. We discuss the salient features of population-screening programs around the globe as well as current and proposed screening test methodologies.
Topics: Child; Female; Hemoglobinopathies; Humans; Infant, Newborn; Population Groups; Population Surveillance; Pregnancy
PubMed: 29751732
DOI: 10.1146/annurev-genom-091416-035451 -
The Journal of Applied Laboratory... Apr 2021
Topics: Hemoglobinopathies; Humans
PubMed: 33169140
DOI: 10.1093/jalm/jfaa126 -
Current Rheumatology Reports Aug 2018To provide a clinically useful literature review on the rheumatic manifestations of haemoglobinopathies, critically analysing the literature from the past 5 years. (Review)
Review
PURPOSE OF THE REVIEW
To provide a clinically useful literature review on the rheumatic manifestations of haemoglobinopathies, critically analysing the literature from the past 5 years.
RECENT FINDINGS
There are limited new data to guide the management of rheumatic manifestations of haemoglobinopathies. Data further confirm the wide spectrum of potential rheumatic/MSK involvement in haemoglobinopathies, which poses both a diagnostic and therapeutic challenge. Inflammatory arthritis may be more common than previously believed. Steroid therapy by any route of administration can provocate a potential life-threatening vaso-occlusive crisis. Vitamin D deficiency is common. There are limited data to guide the drug treatment of reduced bone density in haemoglobinopathies. There have been a number of studies examining pain in sickle cell anaemia. Plasma levels of Klotho may represent a novel biomarker in patients with β-Thalassemia. There are little new data on the rheumatic manifestations in haemoglobinopathies and future high-quality research is needed.
Topics: Hemoglobinopathies; Humans; Rheumatic Diseases
PubMed: 30109514
DOI: 10.1007/s11926-018-0768-7 -
British Medical Journal Feb 1972
Review
Topics: Alleles; Anemia, Sickle Cell; Child; Fetal Hemoglobin; Genetic Code; Hemoglobin C Disease; Hemoglobinopathies; Hemoglobins; Hemoglobins, Abnormal; Humans; Infant; Malaria; Prognosis; Protein Conformation; Thalassemia
PubMed: 4550414
DOI: 10.1136/bmj.1.5796.363 -
American Journal of Public Health Aug 1974
Topics: Adolescent; Adult; Age Factors; Anemia, Sickle Cell; Child; Female; Genetic Counseling; Health Education; Hemoglobinopathies; Hemoglobins, Abnormal; Heterozygote; Humans; Infant; Infant, Newborn; Jurisprudence; Male; Pregnancy; Premarital Examinations; Prenatal Diagnosis; School Health Services; Umbilical Cord; United States
PubMed: 4835144
DOI: 10.2105/ajph.64.8.799 -
Hemoglobin Jul 2022A 5-year-old female has been diagnosed with Hb Hammersmith (: c.128T>C) and has required three blood transfusions thus far, with hemoglobin (Hb) levels dropping as low...
A 5-year-old female has been diagnosed with Hb Hammersmith (: c.128T>C) and has required three blood transfusions thus far, with hemoglobin (Hb) levels dropping as low as 5.4 g/dL. An elective splenectomy is now being considered in order to reduce hemolysis and the need for transfusions. Of 18 previously reported cases of Hb Hammersmith, eight patients have reportedly undergone splenectomy, with only four of those studies reporting clinical improvement. Therefore, the role of splenectomy in unstable hemoglobinopathies remains unclear, but seems to be a promising option in Hb Hammersmith.
Topics: Female; Humans; Child, Preschool; Splenectomy; beta-Globins; Hemoglobins, Abnormal; Hemoglobinopathies
PubMed: 35762361
DOI: 10.1080/03630269.2022.2072318 -
Minerva Pediatrica Apr 1972
Topics: Child, Preschool; Electrophoresis; Female; Hemoglobinopathies; Hemoglobins; Humans; Thalassemia
PubMed: 5018446
DOI: No ID Found -
Gematologiia I Transfuziologiia Sep 1987
Topics: Adult; Female; Hemoglobin E; Hemoglobinopathies; Hemoglobins, Abnormal; Heterozygote; Homozygote; Humans; Iron; Male; Middle Aged; Vietnam
PubMed: 3692119
DOI: No ID Found -
The New England Journal of Medicine Sep 1981
Topics: China; Hemoglobinopathies; Humans; Thalassemia
PubMed: 7266621
DOI: 10.1056/nejm198109243051316