Sistani Population: a Different Spectrum oF β-Thalassemia Mutations From other Ethnic Groups of Iran

Miri‐Moghaddam, Ebrahim; Zadeh‐Vakili, Azita; Nikravesh, Abbas; Sistani, Sharareh Sanei; Naroie-Nejad, Mehrnaz

doi:10.3109/03630269.2013.769886

Cited by 11 publications

(5 citation statements)

References 28 publications

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“…However, we recorded LRC as the second major component before FFP that probably was due to the type of patients and hospitals evaluated. This province is one of the most prevalent areas of thalassemia in Iran with the routine use of LRC and WRC products (11)(12)(13).…”

Section: Discussionmentioning

confidence: 99%

Determination of Blood components Utilization Pattern in Zahedan City, Southeast of Iran

et al. 2020

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Background: Predicting future blood requirements and optimizing current transfusion practices require information on blood product utilization. Objectives: The aims of this study was to determine the utilization patterns of blood components in Zahedan, the capital city of Sistan and Balouchestan province in southeastern Iran. Methods: This descriptive study was conducted from March to August 2015. Blood bank data were collected from seven hospitals. Moreover, the archived blood request forms were studied for the demographic data of blood receivers. Results: Overall, 13,312 blood request forms (30,418 requested blood units) were studied. The mean age of the recipients was 24.3 ± 20 year and 38.9% of them were of the O blood group, followed by B (28.8%). Packed cell (PC) units were the most commonly used products (36.7%), followed by leuko-reduced red cells (25.4%), fresh frozen plasma (FFP) (16.8%), platelets (15.2%), cryoprecipitate (3.2%), and washed red cells (2.5%). The major users of blood components were the thalassemia wards (38.7%). Among the blood components, the highest wastage was related to PC with 32.3%, followed by FFP with 22.5%. The highest rate of wastage was recorded in the surgery (1,081 units) and emergency (784 units) wards for PC products and CCUs (376 units) and ICUs (167 units) for FFP products. Conclusions: A high rate of blood wastage was observed in the use of PC and FFP units. Increased awareness of physicians and medical students leads to proper blood consumption in the future. The Hospital Blood Transfusion Committee should review blood transfusion guidelines to optimize blood consumption.

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Section: Discussionmentioning

confidence: 99%

Determination of Blood components Utilization Pattern in Zahedan City, Southeast of Iran

et al. 2020

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“…Almost all studies were conducted in Turkish Azeri, Northwestern Iran, West Iran, and Southwest Iran and Iranian Kurds reported the latter mutation as the most common beta-globin gene defect (23)(24)(25) . Moreover, it has been previously reported as having the highest rate in other populations in the surrounding countries, such as Jordan, Syria, Kuwait, and Saudi Arabia (19) .…”

Section: Discussionmentioning

confidence: 99%

“…On the other hand, it was detected at low frequency in Mediterranean Arab countries including Syria (1.4%), Lebanon (1%), Israeli Arab (6%), Egypt (5.6%), Tunisia (4.4%), and Algeria (0.9%) (19) . The Cd8/9+G mutation is of Asian-Indian origin, and one Iranian study showed that this mutation is less common among the Sistani Iranian population (25) . Kerman city in Iran recorded it at 4.9% (26) .…”

Section: Discussionmentioning

confidence: 99%

A Spectrum of Β-Thalassemia Mutations in Sulaimani Province of Iraq: Identification of Novel Mutations

Ahmad,

Karim,

Rasool

et al. 2023

JSMC

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Backgroundβ-thalassemia is a most common hereditary disease where the patients suffer from decreased or absence of beta-globin chain synthesis, which leads to hemolytic anaemia and other complications. Very little data about beta-globin mutations in the Kurdish population is available to date. ObjectiveThis study aimed to provide a more precise picture of the β-thalassemia mutations spectrum and to estimate their frequencies. MethodsA cohort of 100 β-thalassemia patients was tested to detect mutations in the beta-globin gene’s regions (3 exons and two introns) using molecular techniques (polymerase chain reaction and Sanger sequencing). ResultsIn this study, a total of 31 beta-thalassemia mutations were identified. The results showed that IVSII-666 C>T and IVSII-16 G>C were predominant over other mutations, with 59% of thalassemic patients having these mutations. Other common mutations found, in order of decreasing frequency, were Cd2 T>C, IVSII-74 T>G, IVS1-110 G>A, IVSI-5 G>C, IVSII-1 G>A, IVSII-81 C>T. The remaining mutations were uncommon and accounted for a few cases. More importantly, five novel beta-thalassemia mutations, namely, IVSII-13G>A, IVSII-14 A>C, IVSII-17 delC, IVSII-68_69 dupG, and Cd2/3 +C, were discovered which have not been previously reported in other populations. ConclusionThe results obtained in this study can be used as a guide before prenatal diagnosis and during premarital screening of β-thalassemia in the Kurdish population.

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“…Due to the genetic diversity of multiple disorders, genomes molecular evaluation is required for the entire world (8)(9)(10). While diagnostic methods are developed, yet the wide majority of ID causes do not have definitive molecular detection.…”

Section: Definitionsmentioning

confidence: 99%

Novel Insight Into Intellectual Disability; A Review Article

Parsamanesh

Miri‐Moghaddam

2018

Gene Cell Tissue

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Intellectual disability or cognitive disturbance is a prevalent neurological problem determined by the low-level intelligence quotient (< 70). Intellectual disability affects approximately 1% to 3% of the general population. The collaboration of environmental factors and heterogeneous genetic agents can be a cause of intellectual disability in X-linked, autosomal dominant, recessive, and inheritance of mitochondria patterns. Spontaneous mutations in germ line may have vital phenotypic outcomes when involved in bases of the whole genome. Discovering the etiology of intellectual disability plays a role in precise diagnosis and can help the couple plan in the near future. Development of genome sequencing can improve mutation detection in a single experiment. These tools have been shown as a new way for the conception of the molecular pathway in a genetic disorder. This finding can have a profound implication for early diagnosis and treatment development. This study reviewed recent reports of de novo mutations detection of intellectual disability in the Iranian population by whole exome sequencing approaches.

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Sistani Population: a Different Spectrum oF β-Thalassemia Mutations From other Ethnic Groups of Iran

Cited by 11 publications

References 28 publications

Determination of Blood components Utilization Pattern in Zahedan City, Southeast of Iran

Determination of Blood components Utilization Pattern in Zahedan City, Southeast of Iran

A Spectrum of Β-Thalassemia Mutations in Sulaimani Province of Iraq: Identification of Novel Mutations

Novel Insight Into Intellectual Disability; A Review Article

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