Experience With Dabigatran on Rate of Portal Vein Thrombosis Recanalization, Disease Progression and Survival.

Background And Aims: We assessed clinical, procoagulant and genetic risk factors and clinical outcomes in dabigatran-treated patients with non-tumoural acute and acute-on-chronic portal vein thrombosis (PVT).

Methods: Patients with a new diagnosis of non-tumoural acute and acute-on-chronic PVT between January 2021 and January 2024 (aged ≥ 18 years) in those without/with cirrhosis (Child-Pugh (CP)-A/B/C ≤ 10) were started on dabigatran and followed and compared with those on vitamin K antagonist (VKA) and untreated individuals.

Results: Dabigatran was prescribed in 119 patients with PVT type 1 (61, 51.

Feto-Maternal Outcomes in Pregnancy With Factor VII Deficiency in a Tertiary Care Institution.

This paper aims to study antepartum and postpartum bleeding manifestations of patients with factor VII (FVII) deficiency, their management, and feto-maternal outcomes, to establish danger signs and management protocols. We describe a case series of nine pregnancies in four patients with FVII deficiency diagnosed at a tertiary care referral center in India between 2012 and 2023. Out of nine pregnancies, six had cesarean deliveries, two had vaginal deliveries, and one had dilatation and curettage for unwanted pregnancies.

Prothrombin G20210A Mutation is Rare but not Absent Among North Indian Patients with Thromboembolic Events.

Unlabelled: Traditionally considered to be absent in India, prothrombin gene G20210A (NM_000506.5(F2): c.*97G > A) mutation (PGM) has recently been reported in few Indian patients.

Unearthing the genotype-inhibitor phenotype association in severe haemophilia A: A north Indian cohort study.

Introduction: Various risk factors for inhibitor development in haemophilia A (HA) have been described but Indian data remains scanty.

Aim: We aimed to evaluate the genetic changes in Indian HA-patients that are associated with the development of inhibitors.

Methods: All HA-patients with inhibitors who availed coagulation-laboratory services from January-2015 till December-2021 and had their samples preserved for DNA extraction were included in this study.

Factors associated with thrombo-hemorrhagic deaths in patients with Acute Promyelocytic leukemia treated with Arsenic Trioxide and all-trans retinoic acid.

Acute Promyelocytic Leukemia (APL) is associated with excellent long-term outcomes. However, early mortality due to coagulopathy remains a challenge. In this study we examined the bleeding and thrombotic manifestations, as well as incidence of Early Death secondary to thrombosis/hemorrhage (ED-TH) in patients with APL.

Bleeding risk assessment in immune thrombocytopenia.

The bleeding risk in immune thrombocytopenia (ITP) is related not only to low platelet count but also to the presence of platelet dysfunction. However, diagnosing a concomitant platelet dysfunction is challenging as most of the available platelet function assays (PFAs) require a platelet count of greater than 100,000/μL. Sonoclot coagulation and platelet function analyzer works on the principle of viscoelastometry, and results remain unaffected by the platelet counts.

Correction to: Genetic Spectrum in F13A1 Detected by Next-Generation Sequencing Among North Indian Patients with FXIII Deficiency.

[This corrects the article DOI: 10.1007/s12288-022-01579-1.].

Genetic Spectrum in F13A1 Detected by Next-Generation Sequencing Among North Indian Patients with FXIII Deficiency.

Purpose: The study aimed to explore the molecular defects underlying FXIII deficiency.

Materials And Methods: Sixteen unrelated cases were enrolled based on the indication of the urea clot solubility test and Factor XIII-A antigen levels. Cases were further subjected to targeted next-generation sequencing (custom gene panel: , , , , The pathogenic/likely pathogenic variants were validated by Sanger sequencing in the patients and family members.

Impact of ABO blood group antigens on residual factor VIII levels and risk of inhibitor development in hemophilia A.

Background: The clinical phenotype of hemophilia A (HA) does not always correlate with severity. Similarly, the presence of inhibitors does not necessarily increase the risk of bleeding. This paradox between clinical and laboratory findings may be partially attributed to non-modifiable factors, such as blood group, which is known to influence FVIII levels in healthy individuals.

Granulomatous inflammation and hypogammaglobulinemia: Clinical conundrum of familial hemophagocytic lymphohistiocytosis type 5.

Familial hemophagocytic lymphohistiocytosis (HLH) is an inherited disorder characterized by systemic hyperinflammation caused by an uncontrolled immune response mediated by T-lymphocytes, natural killer (NK) cells, and macrophages. Most children with familial HLH present within first 2 years of life and can have fatal disease unless hematopoietic stem cell transplant (HSCT) is performed (1). However, few patients may have late presentation and prolonged survival.

Molecular spectrum of inherited FVII deficiency in North India revealed a recurrent variant with a founder effect.

Introduction: Inherited Factor VII (FVII) deficiency is commonest among the rare bleeding disorders. A small number of patients present in infancy with severe bleeding, and many may remain asymptomatic but detected before surgery/invasive procedures. Genetic testing may be helpful in predictive testing/prenatal diagnosis in severe cases.

The activated partial thromboplastin time-clot waveform analysis in hemophilia: Does it help in differentiation?

Introduction: The clot waveform analysis (CWA) provide valuable information beyond clotting time. The present study was planned to assess whether the activated partial thromboplastin time (aPTT)-CWA can differentiate between hemophilia A (HA), hemophilia B (HB), or hemophilia A with inhibitors (HAWI).

Methods: The aPTT-CWA was generated by an optical detection system (ACL-TOP™ 500 coagulation analyzer) and the other tests were performed as per instructions from the manufacturer in the kit.

Inhibitor; An Uncommon But Vexing Challenge In North Indian Patients With Hemophilia A.

Factor VIII replacement is the mainstay of treatment in hemophilia A but may lead to the development of inhibitors. While a vexing clinical problem, some observations suggest that the presence of inhibitors may not necessarily portend a higher bleeding risk. Our aim was to assess the prevalence and clinicopathological correlates of inhibitors in a well characterized cohort of Indian patients with HA patients.

Prenatal diagnosis for hemophilia A (intron 22 inversion) reveals a rare association with Klinefelter syndrome with diagnostic difficulties in molecular interpretation.

Hemophilia A is an X-linked recessive disorder caused by genetic abnormalities in the F8 . Klinefelter syndrome is sex chromosome aneuploidy caused by nondisjunction during meiosis in the germ cells or mitotic cell divisions in the early embryonic cells. We here report an intriguing case of a prenatal diagnosis where a rare association of hemophilia A and Klinefelter syndrome was found in a fetus.

Association of Heparin-Like Effect, Factor VII/XIII Deficiency and Fibrinolysis with Rebleeding Risk in Cirrhosis with Acute Variceal Bleeding.

Background: Hyperfibrinolysis and coagulation dysfunction may occur in cirrhotic patients with acute variceal bleed (AVB) despite successful endotherapy.

Aims: To prospectively study the association of endogenous heparinoids and coagulation dysfunction with variceal rebleeding and outcome in cirrhosis.

Methods: Consecutive patients were assessed with conventional coagulation tests, SONOCLOT™ [(global(gb) and heparinase(h) treated] and factors VII, VIII, XIII, X, tissue plasminogen activator, and plasminogen activator inhibitor ELISA assays in a university hospital.