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Thalassemia Reports
Volume 5
Issue 1
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Thalassemia Reports is published by MDPI from Volume 12 Issue 1 (2022). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.

Thalass. Rep., Volume 5, Issue 1 (February 2015) – 6 articles

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515 KiB  
Article
The Whys of Patient Centered Care
by Mahmoud Hadipour Dehshal
Thalass. Rep. 2015, 5(1), 5473; https://doi.org/10.4081/thal.2015.5473 - 05 Nov 2015
Viewed by 336
Abstract
My late grandfather kept telling me tales about the influential status of Iranian practitioners (called Hakim) at old times in the lives of the old generations [...] Full article
591 KiB  
Article
Prevalence of Hemolytic Anemia and Hemoglobinopathies among the Pregnant Women Attending a Tertiary Hospital in Central India
by Ranbir S. Balgir
Thalass. Rep. 2015, 5(1), 4644; https://doi.org/10.4081/thal.2015.4644 - 23 Oct 2015
Cited by 3 | Viewed by 1234
Abstract
Anemia in pregnancy is one of the causes of maternal morbidity and, maternal and fetal mortality in India. Hemoglobin transports oxygen to different parts of the body. Any defect in hemoglobin structure leads to its adverse functions. Screening of pregnant women for hemoglobinopahties [...] Read more.
Anemia in pregnancy is one of the causes of maternal morbidity and, maternal and fetal mortality in India. Hemoglobin transports oxygen to different parts of the body. Any defect in hemoglobin structure leads to its adverse functions. Screening of pregnant women for hemoglobinopahties helps in early intervention for reducing morbidity and mortality. Although the prevalence of hemoglobinopathies especially of the sickle cell disorders is high in Madhya Pradesh but any study on pregnant women is lacking. This study had set the objectives to find the prevalence of anemia and hemoglobin disorders in pregnant women, and to determine the health status through hematological indices profile in central India. Hospital based a cross-sectional study showed 12.26% prevalence of hemoglobinopathies among 416 pregnant women, the sickle cell trait being 7.45%, followed by β-thalassemia trait (2.89%), hemoglobin E trait (0.24%), and sickle cell disease (1.68%). About 88% of the pregnant women were found free of hemoglobinopathies. Of the 9.13% pregnant women included in the study were suffering from sickle cell disorders. However, the overall 47.11% anemia was observed in pregnant women, ranging in between 45% to 66% and seemed to show a reduction in anemia after nutritional supplementations and improvement in maternal health care at antenatal check up due to accessibility to medical health facilities. A comparison of hematological indices of pregnant women afflicted with and without sickle cell disorders have revealed much reduced hemoglobin level, red blood cells count, mean corpuscular volume, hematocrit, and mean corpuscular hemoglobin; and raised leucocytosis in sickle cell disorder cases than among the normal pregnant women. A more vigorous and realistic campaign of prophylactic regime of supplementations for these pregnant women and child health care is suggested.
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Case Report
A Novel Single Gene Deletion (−αMAL3.5) Giving Rise to Silent α Thalassemia Carrier Removing the Entire HBA2 Gene Observed in Two Chinese Patients with Hb H Disease: Case Report of Two Probands
by Faidatul Syazlin Abdul Hamid, Rahimah Ahmad, Mohamed Saleem, Nur Aisyah Aziz, Syahira Lazira Omar, Siti Hida Hajira Mohamad Arif, Jameela Sathar and Zubaidah Zakaria
Thalass. Rep. 2015, 5(1), 4675; https://doi.org/10.4081/thal.2015.4675 - 21 Jul 2015
Cited by 1 | Viewed by 530
Abstract
We report a novel deletion at the HBA2 presented with Hb H disease in two Malaysian- Chinese patients. The two unrelated probands were diagnosed with Hb H disease in a primary hematological screening for thalassemia. Results from routine molecular analysis with gap-polymerase chain [...] Read more.
We report a novel deletion at the HBA2 presented with Hb H disease in two Malaysian- Chinese patients. The two unrelated probands were diagnosed with Hb H disease in a primary hematological screening for thalassemia. Results from routine molecular analysis with gap-polymerase chain reaction (PCR) method revealed a genotype asynchrony with the observed clinical presentation. Subsequent DNA analysis using a battery of molecular methods such as gap-PCR, multiplex ligation dependent probe amplification, DNA sequencing, confirmed the presence of a novel deletion in both the index cases removing the entire α2 globin gene. We have designated the deletion as (−αMAL3.5). Hematological indices and clinical findings suggest that the deletion has an α+ phenotype. The molecular process of this deletion is the result from misalignment and unequal crossover event between the duplicated homologous Y-boxes within the α globin gene cluster. Uncharacterized deletions, single nucleotide polymorphism and other nucleotide indels at the primer binding sites may impede the optimum condition for its annealing and extension and therefore may invalidate the gap-PCR obscuring the real genotype.
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Article
Haplotypes, Sub-Haplotypes and Geographical Distribution in Omani Patients with Sickle Cell Disease
by Suha Mustafa Hassan, Muhanna Al Muslahi, Muna Al Riyami, Abeer Al Balushi, Egbert Bakker, Cornelis L. Harteveld and Piero C. Giordano
Thalass. Rep. 2015, 5(1), 4739; https://doi.org/10.4081/thal.2015.4739 - 18 May 2015
Cited by 1 | Viewed by 688
Abstract
Despite the fact that patients homozygous for the sickle cell disease (SCD) mutation have an identical genotype, the severity of the disease can be extremely variable. The hemoglobin (Hb) S mutation has been described on five different haplotypes with different clinical expression. Identifying [...] Read more.
Despite the fact that patients homozygous for the sickle cell disease (SCD) mutation have an identical genotype, the severity of the disease can be extremely variable. The hemoglobin (Hb) S mutation has been described on five different haplotypes with different clinical expression. Identifying the genotypes, haplotypes and sub-haplotypes of the β gene cluster in Oman needs to be studied in more details to establish a correlation between the genotype/haplotype and phenotype diversity observed in SCD patients for prognostic purposes, accurate diagnosis and thus planning for the best tailored treatment. We have investigated 125 HbS homozygotes from different parts of Oman and determined their haplotypes and sub-haplotypes and correlated this to the hematological and clinical expression. We have found 11 haplotype combinations differently distributed in the country, with the Asian/Asian HbS haplotype being the most predominant. Sub-haplotypes was only found among patients with CAR/OmanI haplotype. As expected, the correlation between haplotypes, sub-haplotypes and disease severity was mainly associated with HbF expression. Our study on haplotype/phenotype correlation has shown which major haplotypes occur in the different regions of Oman. Furthermore, neither the haplotype or sub-haplotype nor the HbF alone appeared to be fully associable with the variable clinical phenotypes. External factors do occur and are associated with the expression of the disease.
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Article
Screening of β-Thalassemia Trait among Pregnant Women with NESTROFT
by Hitesh Sarda, Shankaran Rukmini Niveditha and Nirmala Shivlingaiah
Thalass. Rep. 2015, 5(1), 4430; https://doi.org/10.4081/thal.2015.4430 - 10 Mar 2015
Cited by 3 | Viewed by 627
Abstract
The morbidity of β-thalassemia major has forced medical professionals to formulate screening tests to effectively screen β-thalassemia trait (BTT) of which naked eye single tube osmotic fragility test (NESTROFT) is the most cost effective test. Optimal time to screen for BTT appears to [...] Read more.
The morbidity of β-thalassemia major has forced medical professionals to formulate screening tests to effectively screen β-thalassemia trait (BTT) of which naked eye single tube osmotic fragility test (NESTROFT) is the most cost effective test. Optimal time to screen for BTT appears to be during pregnancy, as at risk couples can be offered prenatal diagnosis. We screened 55 pregnant women attending antenatal clinic in a medical college hospital at Bangalore, with NESTROFT. Twelve (21.89%) were NESTROFT positive with mean hemoglobin of 11.2 mg % and packed cell volume of 32.6%. Catering predominantly to Vokkaliga community in whom literature reports increased prevalence of BTT, addition of a cost effective test like NESTROFT in the antenatal panel, appears promising.
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Article
Hemoglobin SE Disease in Hatay, in the Southern Part of Turkey
by Can Acipayam, Gonul Oktay, Gul Ilhan and Mehmet Akif Çürük
Thalass. Rep. 2015, 5(1), 4597; https://doi.org/10.4081/thal.2015.4597 - 24 Feb 2015
Cited by 3 | Viewed by 561
Abstract
Double heterozygosity for hemoglobin (Hb) E and S, known as HbSE disease, is a rare, clinically benign condition involving mild hemolysis. Only 25 cases have been reported to date. The current literature generally associates HbSE with a benign clinical course, although vaso-occlusive complications [...] Read more.
Double heterozygosity for hemoglobin (Hb) E and S, known as HbSE disease, is a rare, clinically benign condition involving mild hemolysis. Only 25 cases have been reported to date. The current literature generally associates HbSE with a benign clinical course, although vaso-occlusive complications have been reported. Although only single case reports were previously available, we have observed 20 cases of HbSE and wish to report them. We examined the records of patients presenting to our hemoglobinopathy center in 2001–2013. High performance liquid chromatography (HPLC) was used for hematological assessment of blood samples with ethylenediaminetetraacetic acid. Eight patients were male and 12 female. Mean hemoglobin electrophoresis values were Hb A1: 6.3%, Hb E 34.5%, HbS: 59.5% and Hb F: 1.9%. Three patients (15%) were symptomatic with vaso-occlusive crisis and one had cerebral stroke. These were siblings. The patient with cerebral stroke was using hydroxyurea. The incidence of HbSE disease is rising due to population admixtures and racial intermarriages. Increased numbers of cases of HbSE have been detected after premarital hemoglobinopathy screening in the Antakya and Çukurova regions of Turkey. The aim of this study was to report large numbers of patients with HbSE diagnosed through the routine HPLC method. The secondary aim was to emphasize that severe vaso-occlusive crisis such as infarction symptoms could be seen in HbSE.
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