Molecular spectrum of alpha-thalassemia in Tunisia: epidemiology and detection at birth.

abstract：:Compromised quality of life (QoL) has been reported in individuals suffering from β-thalassemia major (β-TM) in Pakistan. However, insufficient data of its associated psychosocial, physical and other disease-related determinants is available. In an observational analytical study, 200 subjects aged between 5-25 years, ...

journal_title：Hemoglobin

authors： Yasmeen H,Hasnain S

更新日期：2018-01-01 00:00:00

abstract：:Patients with the β0/β0 type of β-thalassemia (β-thal) usually present as β-thal major (β-TM), and are transfusion-dependent. However, the clinical and hematological features of β-thal can be modulated by different modifiers, resulting in a wide range of clinical severity even in patients with the same genotypes. We r...

journal_title：Hemoglobin

authors： Xie XM,Liu YN,Li J,Jiang F,Li DZ

更新日期：2019-03-01 00:00:00

abstract：:In this study, 32 patients with Hb H (beta(4)) disease have been identified. Three different alpha-thalassemia-1 (thal) determinants; nine with the -17.4 kb (MED I) type, 12 with the -20.5 kb type and 10 with the -26.5 kb (MED II) type were characterized. Of the 32 patients, 19 had the 3.7 kb deletion and one had the ...

journal_title：Hemoglobin

authors： Cürük MA

更新日期：2007-01-01 00:00:00

abstract：:Our study aimed to determine the number of couples with normal hemoglobin (Hb) electrophoresis and low-borderline hematological values, which may come up with a clinically critical status in their offspring. The number of couples at risk for severe α-thalassemia (α-thal) needed to be estimated before recommending gene...

journal_title：Hemoglobin

authors： Hafezi-Nejad N,Khosravi M,Bayat N,Kariminejad A,Hadavi V,Oberkanins C,Azarkeivan A,Najmabadi H

更新日期：2014-01-01 00:00:00

abstract：:Guidelines for minimizing risks from alloimmunization, other transfusion reactions, and infection risks are presented based on the Thalassemia International Federation (TIF) guidelines. Future developments including pretreatment of the red cell product that may reduce infection risks are discussed. The rationale for g...

journal_title：Hemoglobin

authors： Porter J

更新日期：2009-01-01 00:00:00

abstract：:α-Thalassemia (α-thal) is assumed to be very prevalent in Bangladesh. We aimed to assess the prevalence of the disease in the country and provide a model for α-thal newborn screening in Bangladesh. We collected umbilical cord blood (UCB) samples from 413 unrelated newborns in Bangladesh. Demographic information, blood...

journal_title：Hemoglobin

authors： Anwar S,Taslem Mourosi J,Hasan MK,Hosen MJ,Miah MF

更新日期：2020-05-01 00:00:00

abstract：:Sickle cell disease is an inherited hemoglobinopathy associated with significant morbidity and mortality. Reports suggest a high sickle cell disease burden among the indigenous Tharu population of Nepal, who for centuries have inhabited regions where malaria is endemic. Unfortunately, health care resources are limited...

journal_title：Hemoglobin

authors： Marchand M,Gill C,Malhotra AK,Bell C,Busto E,McKeown MD,Cherukupalli A,Yeo J,Arnold B,Kapoor V

更新日期：2017-01-01 00:00:00

abstract：:A 22 year old American negro with mild anemia was found to be triply heterozygous for hemoglobin S, hemoglobin O Arab and alpha thalassemia. Hemoglobin A was not detected in the subject's hemolysate. The alpha thalassemia gene was expressed by an alpha/non-alpha synthesis ratio of 0.71 plus or minus 0.07 and was equal...

journal_title：Hemoglobin

authors： Ballas SK,Atwater J,Burka ER

更新日期：1977-01-01 00:00:00

abstract：:Common alpha-thalassemia (thal) rearrangements were studied in a normal random population and in six ethnic groups of Pakistan. Analyses of 204 individuals from the normal population revealed the presence of only the -alpha(3.7) allele with an overall frequency of 8.3%. Ethnic differences were statistically significan...

journal_title：Hemoglobin

authors： Khan SN,Hasan F,Sollaino C,Perseu L,Riazuddin S

更新日期：2003-08-01 00:00:00

abstract：:A total of 218 beta-thalassemia (thal) genes from 109 beta-thal major patients were characterized using an automated fluorescence DNA sequencing technique. Eight different mutations were identified in all 218 alleles (100%). Four common mutations accounted for 96.8% [49.5% were codons 41/42 (-TTCT), 34.4% were codon 1...

journal_title：Hemoglobin

authors： Sirichotiyakul S,Saetung R,Sanguansermsri T

更新日期：2003-05-01 00:00:00

abstract：:This study concerns the molecular characterization of beta-thalassemia (beta-thal) alleles in 210 chromosomes. In the studied population, mutations were detected in 98% of the beta-thalassemic chromosomes. Twenty-one molecular defects have been found, where the five dominant mutations, IVS-I-110 (G>A), nonsense mutati...

journal_title：Hemoglobin

authors： Boudrahem-Addour N,Zidani N,Carion N,Labie D,Belhani M,Beldjord C

更新日期：2009-01-01 00:00:00

abstract：:We have analyzed the blood samples from seven members of two families that contained mixtures of different hemoglobin types due to the simultaneous presence of different beta chain variants and the alpha chain variant Hb G-Philadelphia. The methods used were isoelectrofocusing and cation exchange high performance liqu...

journal_title：Hemoglobin

authors： Kutlar F,Kutlar A,Nuguid E,Prchal J,Huisman TH

更新日期：1993-02-01 00:00:00

abstract：:A fast-moving hemoglobin variant was found in five members of a Chinese family of the Wuming district. The relative amount of this alpha chain variant in the heterozygote was about 20%. The abnormality caused no ill effects in its carriers. Sequence analysis identified a Lys substituting for Gln substitution at positi...

journal_title：Hemoglobin

authors： Zeng YT,Huang SZ,Xu L,Long GF,Lam H,Wilson JB,Huisman TH

更新日期：1981-01-01 00:00:00

abstract：:Alpha-Thalassemia (thal) is generally considered to be an expression defect caused mostly by deletions silencing one or more alpha-globin genes. Although nondeletional alpha-thalassemia is considered rare, in our laboratory we frequently observe alpha-thal phenotypes induced by point mutations. We report a new point m...

journal_title：Hemoglobin

authors： Harteveld CL,van Delft P,Plug R,Versteegh FG,Hagen B,van Rooijen I,Kok PJ,Wajcman H,Kister J,Giordano PC

更新日期：2002-08-01 00:00:00

abstract：:The high performance liquid chromatograms of the hemoglobins in a hemolysate show minor peaks on reversed phase columns in addition to the expected major peaks of the alpha, beta, and gamma chains. One of these had previously been identified as the delta chain. The material in the most prominent minor peak which is te...

journal_title：Hemoglobin

authors： Schroeder WA,Shelton JB,Huynh V,Shelton JR

更新日期：1986-01-01 00:00:00

abstract：:Clinical, hematologic, and molecular genetic studies are reported for five families with SS patients having unusually high fetal hemoglobin (Hb F) levels (mean 28.3%, range 19-42%). Some of the individuals were symptom-free and one was not anemic. However, some were symptomatic despite a very high Hb F. Neither the Hb...

journal_title：Hemoglobin

authors： Seltzer WK,Abshire TC,Lane PA,Roloff JS,Githens JH

更新日期：1992-01-01 00:00:00

abstract：:The molecular basis of the thalassemias has been studied in many of the world's populations. Here we report the results of the first screening for mutations in Vietnam. Twenty-three unrelated patients, of which 17 have Hb E/beta-thalassemia, were diagnosed and beta-globin mutations were detected in all 46 chromosomes....

journal_title：Hemoglobin

authors： Filon D,Oppenheim A,Rachmilewitz EA,Kot R,Truc DB

更新日期：2000-05-01 00:00:00

abstract：:The hemoglobin (Hb) pattern of a 32-year-old Somali male living in The Netherlands, during routine diabetes mellitus monitoring, showed two more peaks in addition to the characteristic heterozygous Hb A/S pattern. A major peak of 15% faster than Hb A, and a minor one of 10.8%, overlapping Hb A2 and the glycated Hb S1c...

journal_title：Hemoglobin

authors： Harteveld CL,Van Delft P,Akkermans N,Arkesteijn S,Van Rooijen-Nijdam IH,Kok PJ,Versteegh FG,Giordano PC

更新日期：2004-08-01 00:00:00

abstract：:Despite estimated high prevalence of inherited hemoglobin (Hb) disorders among tribal populations in Madhya Pradesh State, India, the burden of disease is unknown, leading to high morbidity and associated mortality. Our aim was to screen tribal populations in designated tribal districts of Madhya Pradesh State for var...

journal_title：Hemoglobin

authors： Chourasia S,Kumar R,Singh MPSS,Vishwakarma C,Gupta AK,Shanmugam R

更新日期：2020-11-01 00:00:00

abstract：:In a multicenter study (eight centers), we determined secretory phospholipase A(2) (sPLA(2)) levels in patients with sickle cell disease and acute chest syndrome (ACS). The diagnosis of ACS was made according to established criteria. The sPLA2 levels were determined in blood samples collected at baseline (time of diag...

journal_title：Hemoglobin

authors： Ballas SK,Files B,Luchtman-Jones L,Benjamin L,Swerdlow P,Hilliard L,Coates T,Abboud M,Wojtowicz-Praga S,Kuypers FA,Michael Grindel J

更新日期：2006-01-01 00:00:00

abstract：:Iron is an essential component in the structure of certain molecules such as hemoglobin (Hb), myoglobin, cytochrome C and some enzymes. The iron gateway to cells is transferrin receptor (TfR). Soluble transferrin receptor (sTfR) is a product of the TfR that circulates in plasma, its concentration therefore, is proport...

journal_title：Hemoglobin

authors： Khatami S,Dehnabeh SR,Mostafavi E,Kamalzadeh N,Yaghmaei P,Saeedi P,Shariat F,Bagheriyan H,Zeinali S,Akbari MT

更新日期：2013-01-01 00:00:00

abstract：:To help clarify the hematological picture of patients who may be positive for beta- and delta-globin gene mutations, the following study was carried out. Our aim was to identify the delta-globin gene mutations found in the Greek Cypriot population, their frequencies and the Hb A2 values associated with them. Seventy-f...

journal_title：Hemoglobin

authors： Pavlou E,Phylactides M,Kyrri A,Kalogerou E,Makariou C,Georgiou I,Kleanthous M

更新日期：2006-01-01 00:00:00

abstract：:The Ggamma:Agamma ratio is around 70:30 at the time of birth and usually 40:60 in the trace amounts of Hb F found in the adult. Changes in this ratio are observed in several hemoglobin disorders providing insights on the genetics and molecular pathophysiology of these diseases. Several techniques have been proposed to...

journal_title：Hemoglobin

authors： Papassotiriou I,Ducrocq R,Préhu C,Bardakdjian-Michau J,Wajcman H

更新日期：1998-09-01 00:00:00

abstract：:Iran, as a country located in the Thalassemia Belt, has made great progress in thalassemia prevention and treatment. The thalassemia prevention program was implemented in 1995 and the country-wide thalassemia treatment network, consisting of 64 medical universities and faculties, is active. The acknowledgment of the s...

journal_title：Hemoglobin

authors： Hadipour Dehshal M,Tabrizi Namini M,Hantoushzadeh R,Yousefi Darestani S

更新日期：2019-05-01 00:00:00

abstract：:The most common differential diagnosis of β-thalassemia (β-thal) trait is iron deficiency anemia. Several red blood cell equations were introduced during different studies for differential diagnosis between β-thal trait and iron deficiency anemia. Due to genetic variations in different regions, these equations cannot ...

journal_title：Hemoglobin

authors： Sargolzaie N,Miri-Moghaddam E

更新日期：2014-01-01 00:00:00

abstract：:Hb Hammersmith [β42(CD1)Phe → Ser; HBB: c.128T > C] is a rare, unstable hemoglobin (Hb) variant. In this case report, we describe another male case of Hb Hammersmith. A 39-year-old male had hemolytic anemia, cyanosis and splenomegaly since 6 months after birth. He passed the disease allele to his daughter, a 3-year-ol...

journal_title：Hemoglobin

authors： Li R,Wang T,Xie XM,Li DZ

更新日期：2014-01-01 00:00:00

abstract：:Hb Val de Marne [alpha 133(H16)Ser-->Arg] was found in a French family during a neonatal hemoglobinopathy screening program. The abnormal hemoglobin was found, within a few months interval, in two newborn children who were first cousins. In the children as well as in the parents carrying this hemoglobin variant, the r...

journal_title：Hemoglobin

authors： Wajcman H,Kister J,M'Rad A,Marden MC,Riou J,Galacteros F

更新日期：1993-10-01 00:00:00

abstract：:The 5' untranslated region (5'UTR) of beta-globin has been well characterized and is often used as a model for eukaryotic transcription/translation, but there are still questions regarding the mechanism of translational control. Mutations affecting the Cap site at + 1 and at positions +10, +22, +33 and +40-43 have bee...

journal_title：Hemoglobin

authors： Van de Water N,Tan T,Chan G,Cole N,Browett P

更新日期：2008-01-01 00:00:00

abstract：:The benefits of combined deferoxamine (DFO) and deferiprone (L1) chelation therapy, focusing on reducing myocardial iron loading, have been widely reported. Herein, we present the efficacy of combined chelation and its effects on iron load indices. Five thalassemia major (TM) patients who were undergoing chelation mon...

journal_title：Hemoglobin

authors： Tsironi M,Assimakopoulos G,Polonofi K,Rigaki K,Aessopos A

更新日期：2008-01-01 00:00:00

abstract：:Hb Uxbridge [beta 20(B2)Val-->Gly] was found in an English family during a neonatal hemoglobinopathy screening program. In both the child and the parent carrying this hemoglobin variant, the red cell parameters were normal. By isoelectrofocusing Hb Uxbridge appeared to have an isoelectric point slightly higher than Hb...

journal_title：Hemoglobin

authors： Wajcman H,Promé D,Kister J,Davies SC,Galactéros F,Henthorn JS

更新日期：1996-11-01 00:00:00