Results 81 to 90 of about 5,799 (244)

Hemoglobin Subunit-Subunit Affinity-Determinant of Hemoglobin Formation [PDF]

, 1989
Hemoglobin A₂ is often elevated in β-thalassemia and decreased in α-thalassemia. This might be due to hemoglobin subunit-subunit affinity variation. It has been inferred from the study of abnormal hemoglobins that the a subunits have higher affinity for ...
Carter, Inge R., Mansouri, Ali
core   +2 more sources

Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions

Prenatal Diagnosis, EarlyView.
ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij, Frans J. W. Smiers, Tamara T. Koopmann, Ingrid Krapels, Kaatje LePoole, Enrico Lopriore, Johanna M. Middeldorp, Claudia S. Ootjers, Volkher Scharnhorst, Hubertina C. J. Scheepers, Cornelis L. Harteveld, E. J. T. (Joanne) Verweij   +11 more
wiley   +1 more source

Is Hemoglobin Variant Analysis Helpful in the Diagnostic Work-up of Patients Revealing Microcytic Erythrocytosis on Complete Blood Count? [PDF]

, 2015
Introduction: Microcytic erythrocytosis is an abnormal CBC (complete blood count) finding that is under-recognized, poorly understood, and consequently under-utilized in patient care. It is characterized by decreased MCV and increased RBC count.
Dulau-Florea, Alina, Gong, MD, Jerald Z., Gulati, Ph.D, Gene, Joneja, MD, Upasana   +3 more
core   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

بررسی وضعیت بهداشت روانی بیماران مبتلا به تالاسمی ماژور در استان مازندران در سال 1385 [PDF]

, 2007
تالاسمی ماژور بیماری ژنتیکی مزمنی است که با علایم و نشانه های یک کم خونی مزمن و شدید مشخص می گردد. مطالعات اندکی در رابطه با جنبه های مختلف روان پزشکی این بیماری و نیازهای مشاوره ای روان پزشکی و اجتماعی بیماران مذکور در دسترس می باشد.
حسینی, سید حمزه, خانی, حسن, رمضانی, میثم, سیدی طبری, سیده فاطمه, قربانی, آمنه, مجدی, محمدرضا, محسنی, فاطمه, منتظری, علی, نریمانی, بهاره   +8 more
core  

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Molecular bases of α-thalassemia in Argentina [PDF]

, 2015
La α-talasemia, es uno de los desórdenes hereditarios más frecuentes mundialmente. Al presente, el diagnóstico molecular es la única herramienta que permite el diagnóstico certero.
Cerrone, Gloria Edith, Copelli, Silvia Beatriz, Francipane, Liliana, Nash, Abigail, Scheps, Karen, Varela, Viviana   +5 more
core  

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

Prevalence of hemoglobinopathies in school children: the importance of using confirmatory methods

Brazilian Journal of Pharmaceutical Sciences, 2015
The hemoglobinopathies are included among the most common genetic diseases in the world. In Brazil, hemoglobinopathies are related to the diversity of racial backgrounds and the degree of interbreeding.
Cristiane Fernandes de Freitas Tavares, Jacqueline da Silva Guimarães, Ana Maria de Souza   +2 more
doaj   +1 more source

Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives

Pediatric Investigation, EarlyView.
Newborn screening shifts from biochemical to genetic methods. Global exploration is promising but requires overcoming challenges and international collaboration to optimize implementation. ABSTRACT Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early ...
Zhelan Huang, Wenhao Zhou
wiley   +1 more source