Results 1 to 10 of about 24,308 (321)

Hemoglobinopathies [PDF]

Vnitřní lékařství, 2018
This article summarize molecular-genetic basis of hemoglobinopathies, their classification and phenotypic manifestations. The description of individual subgroups is supplemented with a case reports of patients diagnosed in the Czech population. This paper provides an overview of 14 types of α-thalassemic mutations, 34 β-thalassemic alleles, 4 δβ ...
Karel, Indrák, Martina, Divoká, Dagmar, Pospíšilová, Jaroslav, Čermák, Monika, Beličková, Monika, Horváthová, Vladimír, Divoký   +6 more
openaire   +2 more sources

Decision making for hematopoietic stem cell transplantation in pediatric, adolescent, and young adult patients with a hemoglobinopathy—Shared or not?

Pediatric Blood & Cancer, 2021
Hematopoietic stem cell transplantation (HSCT) offers an established curative option for sickle cell disease (SCD) and thalassemia patients but is associated with significant risks.
H. Mekelenkamp, F. Smiers, Nomie Camp, F. Stubenrouch, A. Lankester, M. D. de Vries   +5 more
semanticscholar   +1 more source

High‐oxygen‐affinity hemoglobinopathy‐associated erythrocytosis: Clinical outcomes and impact of therapy in 41 cases

American journal of hematology/oncology, 2021
We describe presenting features, treatment strategies, and follow‐up events involving 41 patients (median age 39 years, range 1–81; 54% males) with high oxygen affinity (HOA) hemoglobinopathy‐associated erythrocytosis, seen at our institution (1973–2020).
N. Gangat, J. Oliveira, J. Hoyer, M. Patnaik, A. Pardanani, A. Tefferi   +5 more
semanticscholar   +1 more source

Pregnancy outcomes in women with a hemoglobinopathy trait: a multicenter, retrospective study

Archives of Gynecology and Obstetrics, 2021
To determine the risk of adverse maternal and neonatal outcomes in pregnant women with a hemoglobinopathy trait. Retrospective cohort study was conducted to compare adverse maternal and neonatal outcomes between pregnant women with a hemoglobinopathy ...
J. Kašpárek, T. Burkhardt, I. Hoesli, Gabriela Amstad Bencaiova   +3 more
semanticscholar   +1 more source

Real-time national survey of COVID-19 in hemoglobinopathy and rare inherited anemia patients

Haematologica, 2020
Faced with the rapidly evolving COVID-19 pandemic, in March 2020 the UK Government advocated strict self-isolation (‘shielding’) to protect extremely vulnerable patient groups deemed at high risk of severe SARS-CoV-2 infection.
P. Telfer, J. de la Fuente, M. Sohal, Rachel S Brown, P. Eleftheriou, N. Roy, F. Piel, S. Chakravorty, K. Gardner, M. Velangi, Emma R. Drasar, Farrukh T Shah, J. Porter, S. Trompeter, W. Atoyebi, Richard Szydlo, K. Anie, K. Ryan, J. Sharif, J. Wright, Emma Astwood, C. Nicolle, A. Webster, D. Roberts, S. Lugthart, B. Kaya, M. Awogbade, D. Rees, R. Hollingsworth, B. Inusa, J. Howard, D. Layton   +31 more
semanticscholar   +1 more source

Time to Do Something for Vitamin D Deficiency; A Review

Journal of Pediatrics Review, 2015
Context: Vitamin D deficiency is a common nutritional disorder in Iran. Vitamin D is an essential health factor from birth onward. This study was conducted to summarize epidemiologic researches regarding vitamin D deficiency in different parts of the ...
Mehrnoush Kosaryan, Mandana Zafari , Aili Aliasgharian, Masomeh Mosawi   +3 more
doaj   +3 more sources

Ferritin thresholds for cardiac and liver hemosiderosis in β-thalassemia patients: a diagnostic accuracy study

Scientific Reports, 2022
Ferritin is frequently used to screen some dire consequences of iron overload in β-thalassemia patients. The study aimed to define the best cutoff point of ferritin to screen for cardiac and liver hemosiderosis in these cases.
Hadi Darvishi-Khezri, Aily Aliasgharian, Mohammad Naderisorki, Mehrnoush Kosaryan, Mobin Ghazaiean, Hanie Fallah, Mohammad Zahedi, Hossein Karami   +7 more
doaj   +1 more source

A National Registry of Thalassemia in Turkey: Demographic and Disease Characteristics of Patients, Achievements, and Challenges in Prevention

Turkish Journal of Hematology, 2018
Objective: The Turkish Society of Pediatric Hematology set up a National Hemoglobinopathy Registry to demonstrate the demographic and disease characteristics of patients and assess the efficacy of a hemoglobinopathy control program (HCP) over 10 years in
Yeşim Aydınok, Yeşim Oymak, Berna Atabay, Gönül Aydoğan, Akif Yeşilipek, Selma Ünal, Yurdanur Kılınç, Banu Oflaz, Mehmet Akın, Canan Vergin, Melike Sezgin Evrim, Ümran Çalışkan, Şule Ünal, Ali Bay, Elif Kazancı, Talia İleri, Didem Atay, Türkan Patıroğlu, Selda Kahraman, Murat Söker, Mediha Akcan, Aydan Akdeniz, Mustafa Büyükavcı, Güçhan Alanoğlu, Özcan Bör, Nur Soyer, Nihal Özdemir Karadaş, Ezgi Uysalol, Meral Türker, Arzu Akçay, Süheyla Ocak, Adalet Meral Güneş, Hüseyin Tokgöz, Elif Ünal, Naci Tiftik, Zeynep Karakaş   +35 more
doaj   +1 more source

Artemisinin derivative-containing therapies and abnormal hemoglobin: Do we need to adapt the treatment?

Parasite, 2021
Background: Artemisinin-based treatment in malaria patients with abnormal hemoglobin may be ineffective because of their genetic particularity, which could lead to resistance.
Gbessi Eric A., Toure Offianan A., Gnondjui Albert, Koui Tossea S., Coulibaly Baba, Ako Berenger A., Tiacoh Nguessan L., Assi Serge-Brice, Sanogo Ibrahima, Sokouri Didier-Paulin, Jambou Ronan   +10 more
doaj   +1 more source

Recent Advances in Sickle-Cell Disease Therapies: A Review of Voxelotor, Crizanlizumab, and L-glutamine

Pharmacy, 2022
Sickle-cell disease (SCD) is an inherited hemoglobinopathy, causing lifelong complications such as painful vaso-occlusive episodes, acute chest syndrome, stroke, chronic anemia, and end-organ damage, with negative effects on quality of life and life ...
Michael Migotsky, Molly Beestrum, Sherif M. Badawy   +2 more
doaj   +1 more source