نتایج جستجو برای: thalassemia

تعداد نتایج: 20990  

Journal: :Cold Spring Harbor perspectives in medicine 2012
Suthat Fucharoen David J Weatherall

Hemoglobin E (HbE) is an extremely common structural hemoglobin variant that occurs at high frequencies throughout many Asian countries. It is a β-hemoglobin variant, which is produced at a slightly reduced rate and hence has the phenotype of a mild form of β thalassemia. Its interactions with different forms of α thalassemia result in a wide variety of clinical disorders, whereas its coinherit...

2016
George Petrakos Panagiotis Andriopoulos Maria Tsironi

Advances in treatment of thalassemia have led to the aging of thalassemic patients, and consequently concern about successful reproductive outcome is augmented. Although women with thalassemia intermedia only were considered competent of achieving pregnancy, case series reveal the willingness of both thalassemia major and thalassemia intermedia women to have a family. Pregnancy in general is ch...

Journal: :Thalassemia Reports 2021

Thalassemia Reports (ISSN: 2039-4365) was launched in 2011 and has become the premier peer-reviewed international medical journal devoted entirely to study, diagnosis, treatment of thalassemia [...]

2017
Nawal Helmi Mawahib Bashir Ayesha Shireen Iffat Mirza Ahmed

Thalassemia is a genetic disorder that involves abnormal haemoglobin formation. The two main categories of thalassemia are alpha and beta thalassemia that are then divided into further subcategories. While some mild forms of thalassemia might even go unnoticed and only cause mild anaemia and iron deficiency problems in patients, other more severe forms of thalassemia can even result in death. I...

Journal: :Blood cells, molecules & diseases 2006
Ali Taher Hussain Isma'eel Maria D Cappellini

Thalassemia intermedia encompasses a wide clinical spectrum of beta-thalassemia phenotypes. Some thalassemia intermedia patients are asymptomatic until adult life, whereas others are symptomatic from as young as 2 years of age. A number of clinical complications commonly associated with thalassemia intermedia are rarely seen in thalassemia major, including extramedullary hematopoiesis, leg ulce...

Journal: :American journal of clinical pathology 2002
Jones Alana K Bergstrome Annette Poon

We prospectively compared a single-tube multiplex polymerase chain reaction (PCR) for detecting alpha-thalassemia with our current approach using 452 blood samples. Initial evaluation of 89 specimens revealed sensitivity and specificity, respectively, for the hemoglobin H inclusion body test (HbH prep) vs PCR for detecting alpha0-thalassemia carriers of 0.79 and 0.96 and for a mean corpuscular ...

Journal: :Clinical chemistry 1998
S Fucharoen P Winichagoon R Wisedpanichkij B Sae-Ngow R Sriphanich W Oncoung W Muangsapaya J Chowthaworn S Kanokpongsakdi A Bunyaratvej A Piankijagum C Dewaele

The conventional approach to qualitative and quantitative analyses of hemoglobin (Hb) molecules for the diagnoses of hemoglobinopathies requires a combination of tests. We used an automated HPLC (VARIANT) system to study alpha-thalassemia and beta-thalassemia syndromes in Thailand. The beta-thalassemia short program is applicable to the diagnosis of alpha-thalassemia and beta-thalassemia disord...

2012
Şinasi Özsoylu

I enjoyed reading Bilgen et al.’s case report, The effect of HBB: (c*+96T>C (3’UTR+1570 T>C) on the mild β-thalassemia intermedia pheonotype, in the recent issue of the Journal (2011; 28: 219-222). I congratulate the authors for exploring at the molecular level at least one of the thalassemia minima that fits well with the present clinical thalassemia nomenclature. Based on their clinical descr...

2005
Virginia Wong

Thalassemia is a congenital hemolytic anemia prevalent in Asian and Mediterranean races. The homozygous state results in thalassemia major or Cooley's anemia, and such patients are transfusion-dependent. A less severe syndrome, thalassemia intermedia, may be due to compound heterozygosity for /3-thalassemia and /3 variant (e.g., hemoglobin E [HbE]) genes and is characterized by anemia, jaundice...

Journal: :Open Access Macedonian Journal of Medical Sciences 2022

Thalassemia is the most common inherited single gene blood disease worldwide and present a significant health problem in world. Approximately, 1.5% of global populations (An estimated 80–90 million people) are carriers β-thalassemia. Around 5% Indonesia population thought to carry thalassemia gene. The globin imbalance β-thalassemia major causes hemolysis ineffective erythropoiesis which result...

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