Habib Allah Golafshan

Iron deficiency anemia and anemia of chronic disorders are the most common types of anemia. Disorders of iron metabolism lead to different clinical scenarios such as iron deficiency anemia, iron overload, iron overload with cataract and neurocognitive disorders. Regulation of iron in the body is a complex process and different regulatory proteins are involved in iron absorption and release from macrophages into hematopoietic tissues. Mutation in these regulatory genes is the most important cause of iron refractory iron deficiency anemia (IRIDA). This review provides a glance into the iron regulation process, diseases related to iron metabolism, and appropriate treatments at the molecular level.

INTRODUCTION: Skin rejuvenation techniques have gained substantial popularity due to increased life expectancy over recent years. Platelet-rich fibrin matrix (PRFM) is the new generation of platelet aggregate products that have surfaced in recent years to treat skin aging. OBJECTIVES: We intend to use PRF to correct periorbital wrinkles in 15 volunteers and evaluate its effectiveness in this study. METHODS: To evaluate the efficacy of PRFM intervention, eight men and women over the age of thirty entered our study. Blood samples were taken and were immediately centrifuged at 700rpm for 5 minutes. PRFM was extracted from the plasma and injected at the sub-dermis site in periorbital areas. The initial severity of periorbital wrinkles was determined by Visioface 1000D, and obtained data were delivered to the statistical unit for statistical analysis. Scoring and evaluation were based on tissue volume and depth and were measured before and twelve weeks after injection. Adverse effects were also taken into consideration. RESULTS: The results demonstrated noticeable improvement in deep, fine, and small wrinkles, periocular hyperpigmentation, and overall skin freshness of the injection site. The subjects had swelling in the injection site for up to one day after the injection, which resolved without complications. CONCLUSIONS: PRFM was observed to have potential in skin rejuvenation, demonstrating promising outcomes in terms of safety and long-term effects in improving skin condition.

BACKGROUND: Alpha hemoglobin stabilizing protein (AHSP) is a chaperone-like molecule specialized for erythroid series which binds to free α-globin chain. According to this characteristic, AHSP can be considered an important factor which reduces beta thalassemia symptoms. MATERIALS AND METHODS: Reticulocytes RNA extraction and a subsequent cDNA synthesis were performed, followed by Relative qRT-PCR for AHSP, alpha, and beta globin chain genes. The beta actin gene was used as an endogenous reference as well. The relationship between AHSP gene expression, disease severity, and the β/α globin mRNA ratio was studied among different homozygote β-thalassemia patients (mild, moderate and severe) and compared with minor thalassemia and the normal population. RESULTS: Analysis of the β-globin/α-globin mRNA ratio has shown that disease severity enhanced with a decrease in this proportion. Evaluation of the correlation between AHSP gene expression and the average of the β-globin/α-globin expression ratio indicated a significant but indirect relationship in considered groups. Our results demonstrated that the AHSP gene expression increases in accordance with augmentation of clinical symptoms. CONCLUSIONS: Although one of the main reasons for reduced clinical severity in homozygote β-thalassemia can be the high level of AHSP gene expression as a chaperon molecule, our findings indicated that AHSP gene expression decreased in a mild category as compared to that in severe and moderate groups.

BACKGROUND: Current routine tests for premarital screening of β-thalassemia carriers are not applicable for diagnosis of rare atypical minor β-thalassemia cases. A more specialized laboratory evaluation for them is the measurement of β/α chain synthesis ratio with the assistance of radioactive amino acids. This method is also no longer routinely accessible. Consequently it is required to establish a rapid, trouble-free, and reliable method that encompasses all the cases of β-thalassemia carriers. Therefore we have determined β/α-globin mRNA ratio by applying relative qRT-PCR in various β-thalassemia patients. METHODS: Reticulocytes RNA extraction and subsequent cDNA synthesis were performed, followed by relative qRT-PCR for α- and β-globin chain genes and β-actin gene as an endogenous reference. β/α-Globin gene ratio was then evaluated with the Pfaffl method. RESULTS: The mean of β/α ratio was 0.99, 0.81, 0.69, and 0.69 for normal population, minor, intermediate, and major β-thalassemia, respectively. Approximately 6% of cases with minor thalassemia RBC index and normal HbA2 and having a decreased β/α ratio were located in the minor β-thalassemia group. The mean of β/α mRNA ratio in normal individuals and minor β-thalassemia was significantly different with all other groups (P-value < 0.05). Nevertheless, there was no such association between β/α mRNA ratio in major and intermediate β-thalassemia. CONCLUSION: According to the significant differences achieved, no overlapping between minor β-thalassemia and normal group, capability of diagnosing atypical minor β-thalassemia, and accessibility of this technique, we can declare that this method could be suggested as a routine premarital screening test for β-thalassemia carriers.

Background: Myeloproliferative neoplasms (MPNs) are heterogeneous disorders with a variety of genetic abnormalities. We aim to assess the prevalence of Calreticulin (CALR) and JAK2 mutations in Iranian MPNs. Materials and Methods: In a cross-sectional study, CALR and JAK2 mutations among 130 MPNs patients, including 78 Philadelphia chromosome-negative (MPN-) and 52 Philadelphia chromosome-positive (MPN+) as well as 51 healthy control subjects, were investigated by GAP-PCR. Results: In MPN- group JAK2 and CALR gene mutations were found in 64.1% and 7.7%, respectively, that 5.1% were positive for both mutations, and 2.6% had only CALR mutation. In polycythemia vera (PV) patients 90% had JAK2 mutation, which was significantly higher than other MPN- or MPN+ patients. Most of the MPN+ patients had neither mutation in CALR nor JAK2 (70% CALR-/JAK2-). Among all patients’ groups, the prevalence of CALR+ mutation in either rs1450785140 (4 cases) or rs765476509 (5 cases) position was not statistically different. Conclusion: These results showed a low prevalence of CALR mutations in all types of MPNs in the Iranian population that its frequency may influence by ethnicity and genetic diversity. CALR mutation may be seen in JAK2 negative cases, also. The PV had the highest JAK2 mutation with a 90 percent positivity rate among MPNs cases. [GMJ.2021;10:e2127]