Hydroxyurea for ß-thalassaemia major

Ansari, Saqib Hussain; Lassi, Zohra S; Ali, Salima M; Adil, Syed Omair; Shamsi, Tahir

doi:10.1002/14651858.cd012064

Cited by 7 publications

(10 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Heterojen moleküler mekanizmalardan kaynaklanan beta talasemi tedavisinde kan transfüzyonları, demir şelasyon tedavisi ve kemik iliği transplantasyonu uygulanmaktadır. Yüksek maliyetler sebebiyle, güvenli kan transfüzyonlarına ve demir şelasyon tedavilerine ulaşmak her hasta için mümkün olmamaktadır (8).…”

Section: Discussionunclassified

Trakya Üniversitesi Tıp Fakültesi Genetik Hastalıklar Tanı Merkezinde beta talasemi minor kliniği ile incelenen bireylerde görülen beta globin mutasyonları ve sıklığı

Yalçıntepe

2019

Ege Tıp Dergisi

View full text Add to dashboard Cite

Beta talasemi, Beta Globin (HBB-Hemoglobin Beta Locus) genindeki dört yüzden daha fazla mutasyonun neden olduğu otozomal resesif kalıtımlı genetik bir hastalıktır. Trakya Bölgesinde HBB geni mutasyonlarını ve sıklığını saptamak amacı ile beta talasemi minor kliniği ile Genetik Hastalıklar Tanı Merkezimize gönderilen 236 hasta çalışmaya dahil edildi. Gereç ve Yöntem: Çalışmaya dahil edilen tüm olgulardan elde edilen periferik kan örneklerinden, sanger sekans yöntemiyle beta globin geni dizi analizi yapıldı.

show abstract

Section: Discussionunclassified

Trakya Üniversitesi Tıp Fakültesi Genetik Hastalıklar Tanı Merkezinde beta talasemi minor kliniği ile incelenen bireylerde görülen beta globin mutasyonları ve sıklığı

Yalçıntepe

2019

Ege Tıp Dergisi

View full text Add to dashboard Cite

show abstract

“…Hydroxyurea is a cheap and cost effective drug that is effective in certain patients with thalassemia for reducing the frequency of blood transfusions required (39). Two α chains combine with the γ-globin chains and form HbF that functions in place of the defective haemoglobin (40). Hydroxyurea not only augments the HbF levels, but also increases the levels of total haemoglobin in the body.…”

Section: Therapeutic Options For Thalassemiamentioning

confidence: 99%

Novel genetic therapeutic approaches for modulating the severity of β‑thalassemia (Review)

et al. 2020

View full text Add to dashboard Cite

Thalassemia is a genetic haematological disorder that arises due to defects in the α and β-globin genes. Worldwide, 0.3-0.4 million children are born with haemoglobinopathies per year. Thalassemic patients, as well as their families, face various serious clinical, socioeconomic , and psychosocial challenges throughout their life. Different therapies are available in clinical practice to minimize the suffering of thalassemic patients to some extent and potentially cure the disease. Predominantly, patients undergo transfusion therapy to maintain their haemoglobin levels. Due to multiple transfusions, the iron levels in their bodies are elevated. Iron overload results in damage to body organs, resulting in heart failure, liver function failure or endocrine failure, all of which are commonly observed. Certain drugs have been developed to enhance the expression of the γ-gene, which ultimately results in augmentation of fetal haemoglobin (HbF) levels and total haemoglobin levels in the body. However, its effectiveness is dependent on the genetic makeup of the individual patient. At present, allogeneic haematopoietic Stem Cell Transplantation (HSCT) is the only practically available option with a high curative rate. However, the outcome of HSCT is strongly influenced by factors such as age at transplantation, irregular iron chelation history before transplantation, histocompatibility, and source of stem cells. Gene therapy using the lentiglobin vector is the most recent method for cure without any mortality, graft rejection and clonal dominance issues. However, delayed platelet engraftment is being reported in some patients. Genome editing is a novel approach which may be used to treat patients with thalassemia; it makes use of targeted nucleases to correct the mutations in specific DNA sequences and modify the sequence to the normal wild-type sequence. To edit the genome at the required sites, CRISPR/Cas9 is an efficient and accurate tool that is used in various genetic engineering programs. Genome editing mediated by CRISPR/Cas9 has the ability to restore the normal β-globin function with minimal side effects. Using CRISPR/Cas9, expression of BCL11A can be downregulated along with increased production of HbF. However, these genome editing tools are still under in-vitro trials. CRISPR/Cas9 has can be used for precise transcriptional regulation, genome modification and epigenetic editing. Additional research is required in this regard, as CRISPR/Cas9 may potentially exhibit off-target activity and there are legal and ethical considerations regarding its use. Contents 1. Introduction 2. Therapeutic options for thalassemia 3. Gene-based therapies 4. Conclusions

show abstract

“…Some chemicals and drugs such as Hydroxia Urea (HU) can induce synthesis of fetal hemoglobin in adults. Studies show that HU treatment was effective on increasing gamma globin and effective for beta-thalassemia and improve clinical and hematological symptoms in thalassemia intermedia (63,64).…”

Section: Change Of Expression and Production Of Hbfmentioning

confidence: 99%

Thalassemia an update: molecular basis, clinical features and treatment

Tari

Ardalan

Abbaszadehdibavar

et al. 2018

IJBMPH

View full text Add to dashboard Cite

halassemia is a Greek word that taken from two words, Thalassa means Sea and Emia means blood, thus called Mediterranean anemia or Cooley's anemia, anemia in Persian. Thalassemia is a congenital hemolytic disease that inherited according to Mendel's laws. The first an American scientist named Dr. Cooley defined it's to other in1925. In this synthesis and defective Hb produce. In erythroid precursors additional chains don't pair together, this synthesis that this leads unbalanced Hb chain damage and lyse cells (1). If beta chain is defective, called beta thalassemia and if alpha chain is defective, called alpha thalassemia. Beta-thalassemia syndromes are a group of hereditary blood disorders characterized by reduced or absent beta-globin chains expression that T

show abstract

Hydroxyurea for ß-thalassaemia major

Cited by 7 publications

References 19 publications

Trakya Üniversitesi Tıp Fakültesi Genetik Hastalıklar Tanı Merkezinde beta talasemi minor kliniği ile incelenen bireylerde görülen beta globin mutasyonları ve sıklığı

Trakya Üniversitesi Tıp Fakültesi Genetik Hastalıklar Tanı Merkezinde beta talasemi minor kliniği ile incelenen bireylerde görülen beta globin mutasyonları ve sıklığı

Novel genetic therapeutic approaches for modulating the severity of β‑thalassemia (Review)

Thalassemia an update: molecular basis, clinical features and treatment

Contact Info

Product

Resources

About

Hydroxyurea for ß-thalassaemia major

Cited by 7 publications

References 19 publications

Trakya Üniversitesi Tıp Fakültesi Genetik Hastalıklar Tanı Merkezinde beta talasemi minor kliniği ile incelenen bireylerde görülen beta globin mutasyonları ve sıklığı

Trakya Üniversitesi Tıp Fakültesi Genetik Hastalıklar Tanı Merkezinde beta talasemi minor kliniği ile incelenen bireylerde görülen beta globin mutasyonları ve sıklığı

Novel genetic therapeutic approaches for modulating the severity of &beta;‑thalassemia (Review)

Thalassemia an update: molecular basis, clinical features and treatment

Contact Info

Product

Resources

About

Novel genetic therapeutic approaches for modulating the severity of β‑thalassemia (Review)