Limits...
Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions

View Article: PubMed Central - PubMed

ABSTRACT

Background: Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand Disease (vWD) type 3, Glanzmann’s thrombasthenia (GT) and Bernard–Soulier syndrome. Patients with primary bleeding disorders from all the major provincial capitals of Pakistan were screened for ARBDs. Prothrombin (PT), activated partial thromboplastin time (APTT), bleeding time (BT) and fibrinogen levels were measured. Cases with isolated prolonged APTT were tested for factors VIII and IX using factor assays This was followed by FXI:C level assessment in cases with normal FVIII and FIX levels. vWD was screened in patients with low FVIII levels. Factors II, V and X were tested in patients with simultaneous prolongation of PT and APTT. Peripheral blood film examination and platelet aggregation studies were performed to assess platelet disorders. Urea clot solubility testing was done to detect Factor XIII levels where platelet function tests were normal. Descriptive analysis was done using SPSS version 16.

Results: Of the 429 suspected bleeding disorder patients, 148 (35%) were diagnosed with hemophilia A and 211 (49.1%) patients had ARBDs. 70 patients (16.3%) remained undiagnosed. Out of 211 patients with ARBD; 95 (33.8%) had vWD type 3. Fibrinogen deficiency was found in 34 patients (12%), GT in 27 (9.6%), factor XIII deficiency in 13 (4.6%), factor VII deficiency in 12 (4.3%), factor V deficiency in 9 (3.2%). Eight patients (2.8%) had vitamin K-dependent clotting factor deficiency, Bernard–Soulier syndrome was diagnosed in seven patients (2.5%), factor X deficiency in 2 (0.7%), factor II deficiency in 2 (0.7%), factor XI deficiency and combined factor V and VIII deficiency in 1 (0.4%) patient each.

Conclusion: vWD type 3 was the most common ARBD found in our sample of patients in Pakistan, followed by fibrinogen deficiency and GT in respective order.

No MeSH data available.


Comparative studies of different nationalities with ARBDs [7, 29, 36]
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License 1 - License 2
getmorefigures.php?uid=PMC5383974&req=5

Fig2: Comparative studies of different nationalities with ARBDs [7, 29, 36]

Mentions: Findings from the current study were compared with those conducted in Italy [35], Iran [35] and India [36], countries with high rates of autosomal recessive diseases due to consanguineous marriages (Fig. 2). In our study patients, vWD type 3 was the most common disorder, with 95 patients (33.8%), although in a similar, local study, the percentage was 51.4% [7], in Iran it was 50% [35], and in Italy, just 4% [35]. It is hence concluded that in south Asian population vWD type 3 has a high frequency among ARBDs. The second most common deficiency found in this study was fibrinogen deficiency (n = 34, 12%). The disease was found to have a frequency of 11% in the Iranian study [35], 8% in the Italian study [35] and 10% in the Indian study [36]. Our study findings are comparable to those from the mentioned contemporary studies. GT, a relatively well understood platelet disorder, was diagnosed in 27 (9.6%) of patients. Its frequency was 6.9% in the Iranian study, 4.7% in the Italian study, and 8.1% in an earlier Pakistani study (Fig. 2).Fig. 2


Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions
Comparative studies of different nationalities with ARBDs [7, 29, 36]
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC5383974&req=5

Fig2: Comparative studies of different nationalities with ARBDs [7, 29, 36]
Mentions: Findings from the current study were compared with those conducted in Italy [35], Iran [35] and India [36], countries with high rates of autosomal recessive diseases due to consanguineous marriages (Fig. 2). In our study patients, vWD type 3 was the most common disorder, with 95 patients (33.8%), although in a similar, local study, the percentage was 51.4% [7], in Iran it was 50% [35], and in Italy, just 4% [35]. It is hence concluded that in south Asian population vWD type 3 has a high frequency among ARBDs. The second most common deficiency found in this study was fibrinogen deficiency (n = 34, 12%). The disease was found to have a frequency of 11% in the Iranian study [35], 8% in the Italian study [35] and 10% in the Indian study [36]. Our study findings are comparable to those from the mentioned contemporary studies. GT, a relatively well understood platelet disorder, was diagnosed in 27 (9.6%) of patients. Its frequency was 6.9% in the Iranian study, 4.7% in the Italian study, and 8.1% in an earlier Pakistani study (Fig. 2).Fig. 2

View Article: PubMed Central - PubMed

ABSTRACT

Background: Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand Disease (vWD) type 3, Glanzmann’s thrombasthenia (GT) and Bernard–Soulier syndrome. Patients with primary bleeding disorders from all the major provincial capitals of Pakistan were screened for ARBDs. Prothrombin (PT), activated partial thromboplastin time (APTT), bleeding time (BT) and fibrinogen levels were measured. Cases with isolated prolonged APTT were tested for factors VIII and IX using factor assays This was followed by FXI:C level assessment in cases with normal FVIII and FIX levels. vWD was screened in patients with low FVIII levels. Factors II, V and X were tested in patients with simultaneous prolongation of PT and APTT. Peripheral blood film examination and platelet aggregation studies were performed to assess platelet disorders. Urea clot solubility testing was done to detect Factor XIII levels where platelet function tests were normal. Descriptive analysis was done using SPSS version 16.

Results: Of the 429 suspected bleeding disorder patients, 148 (35%) were diagnosed with hemophilia A and 211 (49.1%) patients had ARBDs. 70 patients (16.3%) remained undiagnosed. Out of 211 patients with ARBD; 95 (33.8%) had vWD type 3. Fibrinogen deficiency was found in 34 patients (12%), GT in 27 (9.6%), factor XIII deficiency in 13 (4.6%), factor VII deficiency in 12 (4.3%), factor V deficiency in 9 (3.2%). Eight patients (2.8%) had vitamin K-dependent clotting factor deficiency, Bernard–Soulier syndrome was diagnosed in seven patients (2.5%), factor X deficiency in 2 (0.7%), factor II deficiency in 2 (0.7%), factor XI deficiency and combined factor V and VIII deficiency in 1 (0.4%) patient each.

Conclusion: vWD type 3 was the most common ARBD found in our sample of patients in Pakistan, followed by fibrinogen deficiency and GT in respective order.

No MeSH data available.