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Hemophilia
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Hemophilia

A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Medical Research".

Deadline for manuscript submissions: closed (28 February 2025) | Viewed by 13878

Special Issue Editor

Dr. Eleni Gavriilaki

E-Mail Website
Guest Editor
Assistant Professor of Hematology, Aristotle University of Thessaloniki, 56403 Thessaloniki, Greece
Interests: hematology; complement; endothelial injury syndromes
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

We invite medical professionals and researchers to submit articles for a special issue focused on the most recent developments in the field of hemophilia. This comprehensive collection aims to shed light on novel insights, cutting-edge treatments, and multidisciplinary approaches that enhance our understanding and management of this complex bleeding disorder.

Hemophilia, characterized by impaired blood clotting due to deficient or dysfunctional clotting factors, presents significant challenges to affected individuals and healthcare providers. This special issue serves as a platform to showcase innovative research spanning genetics, molecular mechanisms, diagnostics, and/or therapeutic approaches.

Contributors are encouraged to explore topics such as gene therapy breakthroughs, personalized treatment strategies, and the role of emerging technologies in addressing the underlying genetic causes.

We envision this special issue as a collaborative resource that not only highlights the progress made in hemophilia research, but also generates new ideas for future directions. By bringing together a diverse array of perspectives and expertise, we aim to facilitate a deeper understanding of hemophilia and ultimately improve the quality of life for those affected by this condition.

Dr. Eleni Gavriilaki
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Life is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • hemophilia A-B
  • bleeding disorders
  • coagulation disorders
  • clotting factors
  • hemostasis
  • inherited bleeding disorders
  • hemorrhage
  • replacement therapy
  • gene therapy for hemophilia
  • hemophilia treatment centers
  • hemarthrosis
  • prophylactic treatment
  • joint bleeds
  • hemophilia genetics
  • hemophilia carriers

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Published Papers (10 papers)

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Research

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15 pages, 2239 KiB  
Article
Inherited Hemophilia—A Multidimensional Chronic Disease That Requires a Multidisciplinary Approach
by Cristina Claudia Tarniceriu, Loredana Liliana Hurjui, Daniela Maria Tanase, Anca Haisan, Razvan Tudor Tepordei, Gabriel Statescu, Simona Alice Partene Vicoleanu, Ancuta Lupu, Vasile Valeriu Lupu, Manuela Ursaru and Alin Horatiu Nedelcu
Life 2025, 15(4), 530; https://doi.org/10.3390/life15040530 - 24 Mar 2025
Viewed by 285
Abstract
Background: Articular damage is a marker of hereditary hemophilia, especially affecting the large joints of the upper and lower limbs. This retrospective study aimed to emphasize that hereditary coagulopathies, specifically hemophilia A and B, require a multidisciplinary approach due to their complex nature. [...] Read more.
Background: Articular damage is a marker of hereditary hemophilia, especially affecting the large joints of the upper and lower limbs. This retrospective study aimed to emphasize that hereditary coagulopathies, specifically hemophilia A and B, require a multidisciplinary approach due to their complex nature. The primary objectives of the paper are to determine the prevalence of hemophilic arthropathy among individuals with hemophilia in the northeastern region of Romania, identify the most frequently affected joints, and assess whether there is a correlation between the development of hemophilic arthropathy, the type of hemophilia, and the treatment received. The secondary objectives of the work are to identify a series of particularities regarding the occurrence of the comorbidities depending on the type of hemophilia and the treatment and severity of arthropathies. Materials and Methods: We conducted a retrospective study that included 36 adults with hemophilia A and B. The status of the osteoarticular system was evaluated using the modified Hemophilia Joint Health Score (mHJHS). Twelve joints were evaluated using the following parameters: swelling, duration of swelling, muscle atrophy, joint pain, crepitus on motion, flexion loss, and extension loss. Results and Discussions: The most severe damage was found in the joints of the knees, ankles, elbows, and wrists. In the knees, severe damage was noted significantly more frequently in the right knee (50% vs. 33.3%; p = 0.001). In the ankles, a higher frequency of mild damage to the left ankle was noted (44.4% vs. 27.8%; p = 0.002). The severe form of hemophilia was correlated with severe joint damage (p < 0.05). Comorbidities like cardiovascular disease, obesity, viral infection (HCV infection), and gastrointestinal disease were found in the hemophilia population of our study. All patients with HCV infection had severe joint damage, while 38.5% of patients without HCV infection had mild joint damage, and 30.8% had no joint damage (p = 0.001). In all patients with HCV virus infection, the treatment was short-term substitution (intermittent prophylaxis), while in 53.8% of patients without HCV virus infection, the treatment consisted of continuous prophylaxis (p = 0.001). Conclusions: It is currently essential to determine methods for comprehensive hemophilia care that involves multidisciplinary medical services necessary for the diagnosis, treatment, and management of the condition and its complications and comorbidities. Full article
(This article belongs to the Special Issue Hemophilia)
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11 pages, 2553 KiB  
Article
Emergency-Driven Multiple Simultaneous Invasive Procedures in Haemophilia
by Cristina Emilia Ursu, Margit Șerban, Jenel Marian Pătrașcu, Daniel Coriu, Jenel Marian Pătrașcu, Jr., Ioana Ioniță, Adina Trăilă, Ciprian Tomuleasa, Delia Săvescu, Melen Brânză, Codruţ Ivan and Teodora Smaranda Arghirescu
Life 2024, 14(9), 1172; https://doi.org/10.3390/life14091172 - 18 Sep 2024
Viewed by 934
Abstract
Despite the controversies regarding the appropriateness and justification of simultaneous bi- and multi-concomitant surgical procedures, this operative technique is increasingly undertaken for economic reasons. This paper discusses three cases of simultaneous interventions: two involving osteoarticular procedures and one involving a complex approach encompassing [...] Read more.
Despite the controversies regarding the appropriateness and justification of simultaneous bi- and multi-concomitant surgical procedures, this operative technique is increasingly undertaken for economic reasons. This paper discusses three cases of simultaneous interventions: two involving osteoarticular procedures and one involving a complex approach encompassing general and plastic surgery. The indications in emergency-driven cases are mandatory, life-saving, and limb-saving, and not subject to debate. Full article
(This article belongs to the Special Issue Hemophilia)
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14 pages, 7216 KiB  
Article
MR Imaging of Hemosiderin Deposition in the Ankle Joints of Patients with Haemophilia: The Contribution of a Multi-Echo Gradient-Echo Sequence—Correlation with Osteochondral Changes and the Number and Chronicity of Joint Bleeds
by Olympia Papakonstantinou, Efstratios Karavasilis, Epaminondas Martzoukos, Georgios Velonakis, Nikolaos Kelekis and Helen Pergantou
Life 2024, 14(9), 1112; https://doi.org/10.3390/life14091112 - 4 Sep 2024
Viewed by 1143
Abstract
We aim (a) to introduce an easy-to-perform multi-echo gradient-echo sequence (mGRE) for the detection of hemosiderin deposition in the ankle joints of boys with haemophilia (b) to explore the associations between the presence and severity of hemosiderin deposition and the other components of [...] Read more.
We aim (a) to introduce an easy-to-perform multi-echo gradient-echo sequence (mGRE) for the detection of hemosiderin deposition in the ankle joints of boys with haemophilia (b) to explore the associations between the presence and severity of hemosiderin deposition and the other components of haemophilic arthropathy, the clinical score, and the number and chronicity of joint bleeds. An MRI of 41 ankle joints of 21 haemophilic boys was performed on a 3 T MRI system using an mGRE sequence in addition to the conventional protocol. Conventional MRI and mGRE were separately and independently assessed by three readers, namely, two musculoskeletal radiologists and a general radiologist for joint hemosiderin. We set as a reference the consensus reading of the two musculoskeletal radiologists, who also evaluated the presence of synovial thickening, effusion, and osteochondral changes. Excellent inter-reader agreement was obtained using the mGRE sequence compared to the conventional protocol (ICC: 0.95–0.97 versus 0.48–0.89), with superior sensitivity (90–95% versus 50–85%), specificity (95.2–100% versus 76.2–95.2%), and positive (95–100% versus 71–94.4%) and negative predictive value (91.3–95.5% versus 87–63%). Hemosiderin deposition was associated with osteochondral changes, synovial thickening, clinical score, and the total number of ankle bleeds, while it was inversely related with the time elapsed between the last joint bleed and MRI. (p < 0.05). The application of an mGRE sequence significantly improved hemosiderin detection, even when performed by the less experienced reader. Joint hemosiderin deposition was associated with the other components of haemophilic arthropathy and was mostly apparent in recent joint bleeds. Full article
(This article belongs to the Special Issue Hemophilia)
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10 pages, 538 KiB  
Article
Stability, Balance, and Physical Variables in Patients with Bilateral Hemophilic Arthropathy of the Ankle versus Their Healthy Peers: A Case–Control Study
by Carlos Truque-Díaz, Javier Meroño-Gallut, Cristina Molina-García, Rubén Cuesta-Barriuso and Raúl Pérez-Llanes
Life 2024, 14(8), 1051; https://doi.org/10.3390/life14081051 - 22 Aug 2024
Cited by 1 | Viewed by 997
Abstract
(1) Background: The recurrence of hemarthrosis in patients with hemophilia triggers a pathophysiological process of degenerative, progressive, and irreversible joint destruction. This hemophilic arthropathy is characterized by chronic pain, muscle atrophy, loss of mobility, and proprioceptive alterations. As the same joint undergoes repeated [...] Read more.
(1) Background: The recurrence of hemarthrosis in patients with hemophilia triggers a pathophysiological process of degenerative, progressive, and irreversible joint destruction. This hemophilic arthropathy is characterized by chronic pain, muscle atrophy, loss of mobility, and proprioceptive alterations. As the same joint undergoes repeated hemarthrosis, the function of the mechanical receptors deteriorates, causing a pathophysiological modulation and deterioration of the musculoskeletal system. The objective was to analyze the differences in stability and balance, as well as in ankle dorsal flexion, functionality, and muscle strength, between patients with bilateral hemophilic arthropathy and their healthy peers. (2) Methods: A cross-sectional descriptive case–control study was performed. Twenty-two participants were recruited: 10 adult patients with bilateral hemophilic arthropathy of the knee and ankle and 12 healthy subjects. The variables were balance (Rs Scan pressure platform), ankle dorsiflexion range of motion (Leg Motion), functionality (2-Minute Walk Test), and ankle dorsal strength (dynamometry). (3) Results: Statistically significant differences (p < 0.05) were found in the balance without visual support in the Max-Y variable (MD = 2.83; CI95%: 0.33;5.33; Effect size (d) = 0.67), ankle dorsiflexion (MD = 16.00; CI95%: 14.30; 20.0; d = 7.46), and strength of the ankle flexor muscles (MD = 128.50; CI95%: 92.50; 153.60; d = 2.76). (4) Conclusions: Ankle range of motion in dorsal flexion, functionality, and muscle strength in dorsal flexion is poorer in patients with bilateral lower limb hemophilic arthropathy than in their healthy peers. Patients with bilateral hemophilic ankle arthropathy have statistically poorer stability and balance without visual support than their healthy peers. Full article
(This article belongs to the Special Issue Hemophilia)
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14 pages, 4398 KiB  
Article
Comprehensive Screening of Genetic Variants in the Coding Region of F8 in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort
by Samuel Sarmiento Doncel, Ronald Guillermo Peláez, Pablo Lapunzina, Fernando F. Corrales-Medina, Gina Alejandra Díaz Mosquera, Santiago Bonanad, Javier Mauricio Cortes, Mario Cazalla, Natalia Gallego, Felipe Querol-Giner, Jair Tenorio and José A. López Guerrero
Life 2024, 14(8), 1041; https://doi.org/10.3390/life14081041 - 21 Aug 2024
Viewed by 1595
Abstract
Hemophilia A is an X-linked disorder characterized by quantitative deficiency of coagulation factor VIII (FVIII) caused by pathogenic variants in the factor 8 (F8) gene. Our study’s primary objective was to identify genetic variants within the exonic region of F8 in [...] Read more.
Hemophilia A is an X-linked disorder characterized by quantitative deficiency of coagulation factor VIII (FVIII) caused by pathogenic variants in the factor 8 (F8) gene. Our study’s primary objective was to identify genetic variants within the exonic region of F8 in 50 Colombian male participants with severe hemophilia A (HA). Whole-exome sequencing and bioinformatics analyses were performed, and bivariate analysis was used to evaluate the relationship between identified variants, disease severity, and inhibitor risk formation. Out of the 50 participants, 21 were found to have 17 different pathogenic F8 variants (var). It was found that 70% (var = 12) of them were premature truncation variants (nonsense, frameshift), 17.6% (var = 3) were missense mutations, and 11.7% (var = 2) were splice-site variants. Interestingly, 35% (var = 6) of the identified variants have not been previously reported in the literature. All patients with a history of positive inhibitors (n = 4) were found to have high-impact genetic variants (nonsense and frameshift). When investigating the relationship between variant location (heavy versus light chain) and specific inhibitor risk, 75% (n = 3) of the inhibitor participants were found to have variants located in the F8 light chain (p = 0.075), suggesting that conserved domains are associated with higher inhibitor risk. In summary, we identified genetic variants within the F8 that can possibly influence inhibitor development in Colombian patients with severe HA. Our results provide a basis for future studies and the development of further personalized treatment strategies in this population. Full article
(This article belongs to the Special Issue Hemophilia)
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13 pages, 244 KiB  
Article
A Retrospective Observational Study of Quality of Life in a Northern Greece Population of People with Haemophilia
by Eleni Moka, Zacharo Ntova, Eleni Gavriilaki, Nikolaos Kotsiou, Sofia Chissan, Theodosia Papadopoulou and Sofia Vakalopoulou
Life 2024, 14(6), 697; https://doi.org/10.3390/life14060697 - 29 May 2024
Cited by 3 | Viewed by 1157
Abstract
Haemophilia presents a significant challenge to the quality of life of affected individuals. Evaluating the health-related quality of life (HRQoL) of people with haemophilia (PwH) provides a valuable mean of assessing their perception of overall care outcomes, while also identifying influential factors across [...] Read more.
Haemophilia presents a significant challenge to the quality of life of affected individuals. Evaluating the health-related quality of life (HRQoL) of people with haemophilia (PwH) provides a valuable mean of assessing their perception of overall care outcomes, while also identifying influential factors across various age and condition severity demographics. This observational retrospective study determined the HRQoL of 100 adult PwH in Northern Greece through comprehensive analysis and interpretation of their HRQoL levels, particularly in domains concerning their physical, emotional, and mental well-being, obtained through the Haem-A-QoL index questionnaire. Disease severity and young age were significantly associated with the administration of prophylactic treatment (84.2% of patients with severe haemophilia and 65.2% of patients aged 18–30). The mean Haem-A-QoL score was 40.11 ± 17.38, with the lowest HRQoL observed in the 46–60 age group (46.16), and the highest in the ≥61 age groups (35.16). Notably, the ‘Sports/Leisure’ and ‘Physical Health’ domains exhibited the highest scores, in contrast to ‘Family Planning’ and ‘Relationships/Sexuality’. Individuals with mild haemophilia recorded the lowest mean score (39.38), while those with a severe condition exhibited the highest (41.23). Age, disease severity, and physical activity emerged as primary determinants significantly affecting HRQoL outcomes. Full article
(This article belongs to the Special Issue Hemophilia)
13 pages, 488 KiB  
Article
Impact of Replacement Therapy on Pregnancy Outcomes in Hemophilia Carriers: A Historical Cohort Study in Saudi Arabia
by Ebtisam Bakhsh
Life 2024, 14(5), 623; https://doi.org/10.3390/life14050623 - 11 May 2024
Viewed by 1877
Abstract
This retrospective cohort study evaluates the safety and efficacy of replacement therapy with regard to pregnancy outcomes in hemophilia carriers. Hemophilia carriers face elevated bleeding risks during pregnancy, necessitating meticulous management, including replacement therapy with clotting factors. This research examines the records of [...] Read more.
This retrospective cohort study evaluates the safety and efficacy of replacement therapy with regard to pregnancy outcomes in hemophilia carriers. Hemophilia carriers face elevated bleeding risks during pregnancy, necessitating meticulous management, including replacement therapy with clotting factors. This research examines the records of 64 pregnant hemophilia carriers at King Fahad Medical City, Riyadh, from January 2010 to December 2023, analyzing their demographic details, hemophilia type and severity, replacement therapy specifics, and pregnancy outcomes. The study found that 62.5% of the participants had hemophilia A, with 43.8% categorized as severe. Most subjects (87.5%) received recombinant factor VIII at a median dosage of 30 IU/kg weekly. Adverse pregnancy outcomes included gestational hypertension (15.6%), preterm labor (18.8%), and postpartum hemorrhage (12.5%). The cesarean section rate was 28.1%. Neonatal outcomes were generally favorable, with median birth weights at 3100 g and mean Apgar scores of 8.2 and 9.1 at 1 and 5 min, respectively. Logistic regression analysis revealed no significant association between adverse events and therapy type or dosage, though a trend towards significance was noted with once-weekly administration (p = 0.082). The study concludes that replacement therapy is a viable method for managing hemophilia in pregnant carriers, leading to generally favorable maternal and neonatal outcomes. However, it underscores the importance of individualized treatment plans and close monitoring to effectively manage the risks associated with hemophilia during pregnancy. Full article
(This article belongs to the Special Issue Hemophilia)
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Review

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15 pages, 285 KiB  
Review
Transforming Hemophilia A Care: Insights into New Therapeutic Options
by Iasmina-Maria Iurea, Emilia Severin and Alexandra Matei
Life 2024, 14(12), 1568; https://doi.org/10.3390/life14121568 - 29 Nov 2024
Viewed by 1628
Abstract
Hemophilia A is a hereditary bleeding disorder characterized by a deficiency in clotting factor VIII, leading to significant morbidity and a reduced quality of life. This review provides an updated overview of the current understanding of hemophilia A, highlighting its genetic underpinnings and [...] Read more.
Hemophilia A is a hereditary bleeding disorder characterized by a deficiency in clotting factor VIII, leading to significant morbidity and a reduced quality of life. This review provides an updated overview of the current understanding of hemophilia A, highlighting its genetic underpinnings and advancements in treatment strategies. A literature review was conducted using various available databases. Relevant studies on hemophilia A, covering genetics and treatment options, were selected and summarized. Recent developments in gene therapy are discussed, showcasing their potential to offer long-term solutions and reduce the burden of treatment. Additionally, the review addresses global disparities in care and policy implications, emphasizing the need for comprehensive healthcare frameworks to improve outcomes for individuals living with hemophilia A worldwide. By synthesizing recent findings and insights, this review aims to inform clinicians and policymakers about the evolving landscape of hemophilia A management and the necessity for equitable access to care. Full article
(This article belongs to the Special Issue Hemophilia)

Other

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8 pages, 1402 KiB  
Brief Report
CRISPR/Cas9 Edition of the F9 Gene in Human Mesenchymal Stem Cells for Hemophilia B Therapy
by Irving Jair Lara-Navarro, Luis Felipe Jave-Suárez, Juan Antonio Marchal and Ana Rebeca Jaloma-Cruz
Life 2024, 14(12), 1640; https://doi.org/10.3390/life14121640 - 11 Dec 2024
Viewed by 1344
Abstract
Hemophilia B is a genetic disorder characterized by clotting factor IX deficiency and bleeding in joints and muscles. Current treatments involve intravenous infusion of plasma-derived products or recombinant proteins, which have limited efficacy due to the short half-life of infused proteins. Recently, gene [...] Read more.
Hemophilia B is a genetic disorder characterized by clotting factor IX deficiency and bleeding in joints and muscles. Current treatments involve intravenous infusion of plasma-derived products or recombinant proteins, which have limited efficacy due to the short half-life of infused proteins. Recently, gene therapy for bleeding disorders has offered a potential solution. This study aimed to develop an in vitro gene therapy model using the CRISPR/Cas9 system to incorporate the F9 cDNA in human mesenchymal stem cells (hMSCs) to produce clotting factor IX. RNA guide sequences targeting the promoter-exon 1 region of the F9 gene were designed to incorporate a wild-type F9 cDNA into the cells. Knockin was performed with the CRISPR/Cas9 system and pDONOR-CMV/cDNAF9/IRES/EGFP vector template recombination in Lenti-X HEK293 cells and MSCs. A lentiviral F9 cDNA vector was designed as a FIX secretor model to validate the CRISPR/Cas9 system. Results showed successful gene editing and F9 expression in both cell models, although editing efficiency was lower in hMSCs. Future investigations will focus on improving gene editing efficiency using different transfection conditions or hybrid methodologies. This study demonstrates the potential of CRISPR/Cas9-based gene therapy in hMSCs as a target for hemophilia B. Further optimizations are required to translate these findings into clinical applications. Full article
(This article belongs to the Special Issue Hemophilia)
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9 pages, 673 KiB  
Brief Report
Inverse Shifting-PCR Modified by Capillary Electrophoresis for Detecting F8 int22h and int1h Inversions in Severe Hemophilia A Patients and Probable Carriers
by Rosa Michel Martínez-Contreras, Silvia Sofía García-López, Hilda Luna-Záizar and Ana Rebeca Jaloma-Cruz
Life 2024, 14(10), 1332; https://doi.org/10.3390/life14101332 - 18 Oct 2024
Cited by 1 | Viewed by 1182
Abstract
Globally, intron 22 inversions (Inv22s) of the factor VIII gene (F8) are the most frequent pathogenic variants and account for 45–50% of severe hemophilia A (SHA) cases, while intron 1 inversion (Inv1) explains 1–5% of SHA cases. The detection of both inversions by [...] Read more.
Globally, intron 22 inversions (Inv22s) of the factor VIII gene (F8) are the most frequent pathogenic variants and account for 45–50% of severe hemophilia A (SHA) cases, while intron 1 inversion (Inv1) explains 1–5% of SHA cases. The detection of both inversions by an inverse shifting-polymerase chain reaction (IS-PCR) is the first choice worldwide for the diagnosis of patients and carriers of SHA. To improve its sensitivity and reproducibility in the visualization of PCR products, we approached the IS-PCR with fluorescent capillary electrophoresis instead of agarose electrophoresis. Based on the original protocol, we modified two primers by 5’-end labeling with FAM™ fluorescent dye for the detection of the PCR products by capillary electrophoresis. Additionally, the “fast enzymes” BclI and T4-Ligase were incorporated for work saving in the genomic digestion and ligation reactions, respectively. Once we accomplished the standardization and verified the reproducibility of the modified IS-PCR method, we applied it for the diagnosis of a cohort of SHA patients and carriers. The modified IS-PCR by fluorescent capillary electrophoresis for PCR product detection is more sensitive than agarose electrophoresis. The method was also improved by using the new rapid enzymes to save time in the whole process. Full article
(This article belongs to the Special Issue Hemophilia)
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