جستجوی مقالات مرتبط با کلیدواژه "alpha-thalassemia" در نشریات گروه "پزشکی"

Hereditary hemochromatosis (HH) is a rare genetic disorder, causing systemic iron overload. High amounts of iron in the bloodstream gradually oversaturate the trans- ferrin which can cause sedimentation of iron in the pancreas, liver, heart, pituitary and joints, though it can establish multiorgan involvements. We present a case of TFR2 (type 3) HH who had minor α-thalassemia and uncontrolled diabetes mellitus, and discuss the clinical presentation and patient management. A 33-year-old man with type 3 HH and alpha-thalassemia trait, presented with uncon- trolled diabetes mellitus, skin hyperpigmentation and hypogonadism. The patient had high blood glucose ,despite the administration of 80 units of Glargine and 80 units of Aspart insulins per day, but after changing them into human insulins, his diabetes mellitus was surprisingly controlled with only 32 units of NPH and 18 units of Regular insulins. Furthermore, he was treated with testosterone (due to hypogonadism) and Deferasirox (due to iron overload).

A 20-year-old woman presented with left eye ptosis without any headache and pupillary dysfunctions. After the radiological examination, the oculomotor nerve compression was detected in the interpeduncular space by the posterior communicating artery (PCoA) with normal size and shape. The patient underwent frontotemporal craniotomy, and during the surgery, the nerve was detached from the PCoA. Immediately after surgery, all symptoms disappeared. Although oculomotor nerve palsy (ONP) owing to internal carotid-PCoA aneurysm is common, vascular compression due to a non- aneurysmal PCoA is very rare. To the extent of our knowledge, this is the first case in which a slightly displaced, otherwise normal, PCoA causes ONP without any pupillary involvement. After ruling out an aneurysmal artery, this should be considered as one of the possible causes of the ONP.

In various cancers, Ganoderic Acid A (GAA), an active triterpenoid derived from Ganoderma

Thalassemia refers to a category of inherited disorders resulting from defects in synthesizing one or several chains of hemoglobin (Hb). The present study aimed to determine the frequency of alpha and beta-thalassemia mutations in Kurdistan province, Iran.

In this retrospective cross-sectional study, the laboratory data of 340 patients with thalassemia (170 females and 170 males), who were candidates for genetic testing in Kurdistan province, were examined over ten years (2006-2016). The participants were Kurd couples selected from the premarital health screening program.

In this demographic study, 20 beta mutations and nine alpha mutations were identified. Among the beta-thalassemia mutations, intervening sequence or intron No. 2- first nucleotide change as splice site mutation (IVS-II-1) (26.1%), codons 8/9 (14.8%), and intervening sequence or intron No. 1- first nucleotide (IVS-I-1) (12.2%) change as splice site mutation), had the highest frequency rates, respectively, constituting 53% of the beta mutations. In addition, α3.7(82.7%), -α4.2(8.3%), and --MED (Mediterranean deletion) (3.75%) were the most frequent alpha mutations, which constituted more than 90% of the alpha mutations.

According to the results, the most frequent mutations in the HBB gene are IVS-II-1, Codons 8/9, and IVS-I-1, and in the HBA gene are α3.7, -α4.2, and –MED in Kurdistan province. In addition, the role of race and ethnicity as significant, influential factors in thalassemia was observable in the findings. The obtained results also indicated the communication pattern between the studied region's populations. Identifying common thalassemia mutations in an area could greatly benefit the early detection of thalassemia carriers in genetic laboratories and enhance thalassemia prevention programs.

alpha-Thalassemia is caused primarily by deletions of one to two alpha-globin genes and is characterized by absent or deficient production of alpha-globin protein. The South-East Asia (SEA) deletion, 3.7-kb and 4.2-kb deletions are the most common causes. The present study aimed to observe the molecular characteristics of this common alpha-Thalassemia deletions and analyse its haematological parameter.

Blood samples from 173 healthy volunteers from thalassemia carrier screening in Yogyakarta Special Region were used. Haematological parameters were analysed and used to predict the carrier subjects. Genotype of suspected carriers was determined using multiplex gap-polymerase chain reaction and its haematological parameters were compared. The boundary site of each deletion was determined by analysing the DNA sequences.

Seventeen (9.8%) of the volunteers were confirmed to have alpha-Thalassemia trait. Of these, four genotypes were identified namely –α3.7/αα (58.8%), –α4.2/αα (5.9%), –α3.7/–α4.2 (5.9%) and – –SEA/αα (29.4%). The 5′ and 3′ breakpoints of SEA deletion were located at nt165396 and  nt184700 of chromosome 16, respectively. The breakpoint regions of 3.7-kb deletion were 176-bp long, whereas for 4.2-kb deletion were 321-bp long. The haematological comparison between normal and those with alpha-Thalassemia trait genotype indicated a significant difference in mean corpuscular volume (MCV) (p< 0.001) and mean corpuscular haemoglobin (MCH) (p< 0.001). As for identifying the number of defective genes, MCH parameter was more reliable (p= 0.003).

The resultant molecular and haematological features provide insight and direction for future thalassemia screening program in the region.

At present, there is no report that the intestinal flora of pregnant women with mild thalassemia is different from that of healthy pregnant women.

This study compared the composition and changes of the intestinal flora of pregnant women with mild thalassemia to those of healthy pregnant women using metagenomic sequencing technology and evaluated the potential microecological risk for pregnant women and the fetus.

The present study was carried out on 14 mild thalassemia pregnant women with similar backgrounds in the Affiliated Hospital of Putian University, Fujian, China. In the same period, 6 healthy pregnant women were selected as the control group. The genomic deoxyribonucleic acid was extracted from the sable stool samples of pregnant women. Illumina HiSeq sequencing technology was adopted after library preparation. Prodigal software (ver 2.6.3, Salmon software (ver 1.6.0, and Kraken software (ver 2) were used to analyze the sequence data. Moreover, analysis of variance and Duncan’s multiple-comparison test or Wilcoxon rank-sum test were used as statistical methods.

The characteristics of the intestinal flora of pregnant women with mild thalassemia differed significantly from those of healthy pregnant women, showing an increase in some conditionally pathogenic bacteria (e.g., Prevotella stercorea rose and Escherichia coli) and a decrease in some probiotic bacteria, which might affect pregnant women and cause physiological function damage to their offspring by changing metabolic pathways; however, further validation is needed.

The diversity and composition of intestinal flora in pregnant women with mild thalassemia vary significantly from those in healthy pregnant women, especially at the genus and species levels, representing more profound alterations in intestinal microecology.

Alpha-thalassemia (α-thal) appears to be the most common monogenic disorder worldwide. The diagnosis of α-thalassemia depends on the detection of Hemoglobin Bart (Hb Bart's) in newborns, which indicates one or more defective or absent α-globin genes. In addition, in patients with Hemoglobin H (Hb H), the Hb H range usually varies between 7-10 g / dL. Therefore, tracking Hb Bart's and Hb H can be useful in diagnosing thalassemia α. This study was performed to evaluate Hb Bart's and Hb H in infants with α thalassemia in Ardabil province, northwestern Iran.

In this cross-sectional descriptive study, 33 infants with alpha thalassemia mutation, including infants born in Ardabil province, Iran in the years 2020 to 2019. Hemoglobin analysis was performed by capillary electrophoresis system.

Hb H and Hb Bart's were detected in only two cases (6%) and three cases (9%). In this study, only 5 patients (15.15) were observable by detection of Hb Bart's and Hb H levels by electrophoresis. In cases of Hb Bart disease, -α3.7 was the most common genotype. Therefore, most infants with alpha thalassemia were lost when electrophoresis alone was used.

This study showed that molecular analysis of Hb Bart's newborns is necessary to confirm α-thalassemia. Capillary electrophoresis is a way to prevent the diagnosis of rare Hb H and Bart's disease.

Thalassemia is the most common hereditary anemia which has a relatively high prevalence in Iran. In most cases, more than 300 mutations have been identified, which affect genes of alpha and beta globin chains and lead to lack of production or reduction of chains. Iran’s population is composed of different ethnic groups, thus, determining the frequency and distribution of these mutations is essential in different parts of the country. We aimed to assess Thalassemia gene mutations in Kohgiluyeh and Boyer-Ahmad province.

In this cross-sectional study, 656 couples were selected and their Genomic DNA was extracted by DNA extraction kit method and tested using multiplex gap-polymerase chain reaction (gap-PCR), amplification refractory mutation system-PCR (ARMS-PCR), and DNA sequencing. Finally all data were analyzed using the SPSS version 17 software.

More than 13 mutations were found on α-globin genes. Based on gene frequency, the most common mutant allele was –α3.7/αα (rightward) (71.3%) followed by the two gene deletion −α3.7/−α3.7 (2.5%). Other common mutations were polyA2 (2.1%), αcodon 19α/αα (1.7%), –α3.7/αα/–α3.7/αα (1.5%), – (α) 20.5 (0.6%), α−5 nt/αα (0.5%), and other mutations. In this study, more than 21 mutations were identified on beta thalassemia gene. The most common mutation was CD36- /37 (-T) (19.8%). Other common reported mutations included IVSII-1 (G>A) (9.5%), IVS I-110 (G>A) (4.7%), IVSII-745 (C>G) (4.4%), codon 82/83(-G) (3.7%), FSC 8/9 (+G) (1.7%), Codon19(1.5%), 25 bp deletion (beta0) (1.5%), IVS-I-116 (T>G) (1.4%), IVSI-6 (G>C) (1.1%), codon 5 (-CT) (0.9%), codon 88 (-C) (0.5%), and IVSI-1(G>A) (0.3%).

The frequencies of these mutations were different in various parts of the country. Therefore, defining thalassemia mutations is necessary to establish prenatal diagnosis programs leading to lower medical cost in Kohgiluyeh and Boyerahmad province.