Results 31 to 40 of about 840,950 (218)

.BETA.+-Thalassemia with Hemochromatosis.

Internal Medicine, 1992
A 64-year-old man was admitted due to ascites. Laboratory data showed hemoglobin 6.7 g/dl, mean corpuscular volume 82 fl, and ferritin 2,360 ng/ml. Liver biopsy showed hemochromatosis. The diagnosis of beta-thalassemia was suggested by a decreased ratio of beta/alpha-globin synthesis in vitro (0.26).
UCHIHARA, Masakatsu, NOUCHI, Toshihiko, HARANO, Teruo, YAMANE, Michio, SAKAI, Hideki, TAKABE, Kazuhiko, MAE, Sunao, MAEKAWA, Shinya, FUKUMA, Toshiko, MIYAHARA, Yasuhiro, SATO, Chifumi, MARUMO, Fumiaki   +11 more
openaire   +3 more sources

CRISPR Gene Therapy: A Promising One-Time Therapeutic Approach for Transfusion-Dependent β-Thalassemia—CRISPR-Cas9 Gene Editing for β-Thalassemia

, 2023
β-Thalassemia is an inherited hematological disorder that results from genetic changes in the β-globin gene, leading to the reduced or absent synthesis of β-globin.
Gayathri N. Silva, Kesari Warnakulasuriya, Udani Gamage, Sonali Hansika   +3 more
core   +1 more source

Highlights on the Luspatercept Treatment in Thalassemia

, 2023
Luspatercept has been shown to act as a ligand trap, selectively suppressing the deleterious effects of GDF11 that blocks terminal erythroid maturation, restoring normal erythroid differentiation and improving anemia in animal models of &beta ...
Yesim Aydinok, Aydinok, Yesim
core   +1 more source

BETA THALASSEMIA

The Professional Medical Journal, 2018
Background: Inadequate Blood Transfusion is responsible for various problemsin children with Thalasseima. On the other hand, repeated transfusions are related with hazards.About 25-50% of the children with thalassemia major have impaired glucose tolerance (IGT)or diabetes.
Iqbal Ahmed, Muhammad Ammar Sadiq, Umair Arshad, Hafiz Muhammad Anwar ul Haq, Sobia Tabassum, Arshia Sabir, Hafiz Muhammad Ejaz ul Haq   +6 more
openaire   +3 more sources

Varied clinical presentation of compound heterozygous thalassemia with delta beta or hereditary persistence of foetal hemoglobin

Pediatric Hematology Oncology Journal, 2023
Introduction: Delta-beta thalassemia and hereditary persistence of fetal hemoglobin (HPFH) results from a deletion in both the delta and beta genes on chromosome 11.
Sneha Waghela, Sujata Sharma, Nikita Shah, Harshada Uchil, Radha Ghildiyal   +4 more
doaj   +1 more source

Beta-Thalassemia major and pregnancy

Bratislava Medical Journal, 2013
It was studied the clinical management and the medical outcomes of 6 pregnancies in 5 women affected by Beta Thalassemia major, based on last guidelines and pharmacological treatments.Paediatric Department and Department of Obstetrics and Gynaecology of the University of Catania.These patients were taken among a group of 116 women affected by beta ...
Gulino FA, Vitale SG, Fauzia M, Cianci S, Pafumi C, PALUMBO, MARCO   +5 more
openaire   +7 more sources

Whole exome sequencing and rare variant association study to identify genetic modifiers, KLF1 mutations, and a novel double mutation in Thai patients with hemoglobin E/beta-thalassemia

, 2023
Clinical manifestations of patients with Hemoglobin E/beta-thalassemia vary from mild to severe phenotypes despite exhibiting the same genotype. Studies have partially identified genetic modifiers.
Kittiphong Paiboonsukwong (5774672), Nawaporn Tansiri (14836554), Surasak Sawatnatee (14836557), Wikanda Pholmoo (14836590), Supawee Saengboon (13010646), Kanyaporn Charoenprasert (14836566), Wichuda Thamprasert (14836569), Nisachon Khorwanichakij (14836581), Chayamon Takpradit (14836560), Narumol Nolwachai (14836572), Wannaphorn Rotchanapanya (6280742), Saranya Pongudom (14836563), Wanlapa Rattanasawat (14836575), Noppadol Siritanaratkul (6413990), Bhoom Suktitipat (202143), Putchong Saetow (14836584), Chanin Limwongse (145689), Krittichat Kamjornpreecha (14836587), Manop Pithukpakorn (744798), Boonyanuch Dujjawan (14836593), Yingyong Chinthammitr (11857510), Busakorn Sae-Aeng (14836578), Chattree Hantaweepant (14836551)   +22 more
core   +1 more source

ANALYSIS OF VITAMIN D LEVELS IN CHILDREN WITH THALASSEMIA BETA [PDF]

, 2022
Background : Beta Thalassemia is a genetic disorder inherited by autosomal recessive and has spread throughout the world, including Indonesia. Beta thalassemia requires lifelong transfusions, which can cause an accumulation of iron in the skin, liver ...
Ganda, Idham Jaya, Gautama, Johan, Ridha, Nadirah Rasyid   +2 more
core   +1 more source

The impact of iron deficiency on the diagnostic level of HbA2 in beta- thalassemia trait from the Sulaimani hemoglobinopathies screening program.

Advanced Medical Journal, 2022
Background and objectives: The identification of carriers of beta- thalassemia depends on the detection of a high level of hemoglobin A2. The hemoglobin A2 level is influenced by some elements including iron.
Awaz Ahmed Kamal Shalli, Sana Dlawar Jalal, Dler Jaza Mohammed   +2 more
doaj   +1 more source

Identification of Delta-beta Thalassemia in a Family with Elevated Hb F: A Case Report [PDF]

Journal of Krishna Institute of Medical Sciences University, 2020
Delta-beta Thalassemia is a rare variant of thalassemia with elevated Hb F. Heterozygous and homozygous state of delta-beta thalassemia present with features similar to Hereditary Persistence of Fetal Haemoglobin (HPFH) and beta thalassemia ...
Varun Kumar Singh, Pavithra Prabhakar, Sushma Belurkar, Chethan Manohar   +3 more
doaj