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Congenital Combined Bleeding Disorders, a Comprehensive Study of a Large Number of Iranian Patients
Seyed Esmaeil Ahmadi1, Mohammad Jazebi2, Gholamreza Bahoush3
1Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran.
Insights
Congenital combined bleeding disorders (CBDs) are rare but present significant bleeding risks. This study found higher-than-expected CBD coinheritance in Iran, with FV-FVII and FVII/FX deficiencies being most common.
Area of Science:
- Hematology
- Genetics
- Rare Diseases
Background:
- Congenital combined bleeding disorders (CBDs) are rare genetic conditions.
- They are more prevalent in regions with high consanguinity rates.
- CBDs can manifest with diverse and severe bleeding symptoms.
Purpose of the Study:
- To investigate the prevalence and clinical characteristics of congenital CBDs in Iranian patients.
- To identify the most common types of CBDs in the studied population.
- To analyze bleeding assessment scores and treatment patterns.
Main Methods:
- Retrospective analysis of 33 patients diagnosed with CBDs at the Iranian Comprehensive Hemophilia Care Center (2010-2020).
- Exclusion of Factor V, Factor VIII, and Vitamin K Dependent Clotting Factor Deficiency (VKCFD).
- Diagnosis confirmed via medical history and coagulation laboratory tests. Bleeding assessment tools (ISTH-BAT, MCMDM-1VWD, PBAC) were utilized.
Main Results:
- Factor V-Factor VII (FV-FVII) deficiency and Factor VII-Factor X (FVII-FX) deficiency were the most common CBDs (18.1% each).
- Postoperative bleeding was the most frequent reason for referral (14.3%).
- Patients showed significant bleeding scores (mean ISTH-BAT: 9.6 ± 4.79). On-demand therapy was common (69.7%).
Conclusions:
- The coinheritance of bleeding disorders in Iran is unexpectedly high.
- Congenital CBDs can lead to severe bleeding complications.
- Further research into the genetic and clinical aspects of CBDs in Iran is warranted.
Abstract:
Congenital combined bleeding disorders (CBDs) are extremely rare disorders which mainly occur in regions with a high rate of consanguineous marriage. These disorders can present with a variety of symptoms ranging from mucocutaneous bleeding to life-threatening episodes. This study aims to evaluate the prevalence and clinical course of Iranian patients with congenital CBDs. This study is conducted on 450 patients with CBDs who were referred to the Iranian Comprehensive Hemophilia Care Center (ICHCC) between 2010 and 2020. All these patients were diagnosed through evaluation of past medical history and coagulation laboratory investigation. Out of 450 patients, 33 were entered in this study. Having excluded cases with factor (F) V and FVIII deficiency, as well as those with hereditary combined Vitamin K dependent clotting factor deficiency (VKCFD), We found the most common CBDs to be FV-FVII deficiency (n: 6, 18.1%), together with FVII and FX deficiency (n: 6, 18.1%). The most common reason for referral of these patients to ICHCC was postoperative bleeding (14.3%). The mean of The International Society on Thrombosis and Hemostasis-Bleeding Assessment Tool (ISTH-BAT) and condensed MCMDM-1VWD bleeding assessment tool were 9.6 ± 4.79 and 9.1 ± 4.87, respectively (P < 0.005). In 10 females of reproductive age, the mean of Pictorial Bleeding Assessment Chart (PBAC) score was 649.3 ± 554. Among all patients, 23 (69.7%) received on-demand replacement therapy, whereas 5 patients (15.1%) received prophylaxis. In Iran, the coinheritance of bleeding disorders is surprisingly higher than expected. Moreover, patients with congenital CBDs may experience serious bleeding manifestations.
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