Isolated Prothrombin Deficiency: A Case Report of a Rare Coagulation Disorder and Review of Literature.

Congenital prothrombin deficiency is a rare hemorrhagic disorder, frequent in areas with high degrees of consanguinity as it is autosomal recessive in nature. Clinical manifestations are highly variable, ranging from mild episodes of bleeding to severe hemorrhages. Here, we report a child with isolated prothrombin deficiency who presented with a history of pain and soreness in the prepuce associated with bleeding. Laboratory evaluation showed an altered coagulation profile with a prothrombin activity level of 29.8%, indicative of factor-II deficiency. This case highlights the importance of coagulation screening in all patients before even minor invasive procedures and the role of a detailed coagulation profile in confirming a diagnosis in the case of abnormal screening tests.

Screening for Beta Thalassemia Carrier State Among Women Attending Antenatal Clinic in a Tertiary Care Centre and Framing a Model Program for the Prevention of Beta Thalassemia.

Aim This study was carried out to detect beta (ß) thalassemia heterozygous state in antenatal women and to create a validated flag in the software utilizing the screening indices to filter the samples to be subjected to high-performance liquid chromatography (HPLC) and to define a model for the prevention of thalassemia. Methods This cross-sectional study was carried out for a period of two years on women attending the antenatal clinic. Complete blood count (CBC) and peripheral smear were done during their first visit. Serum iron and total iron-binding capacity were done for women who had microcytic hypochromic anemia. The samples of women without iron deficiency were processed by HPLC for hemoglobinopathies. The spouses of women who were found to have beta thalassemia trait were counseled to undergo screening, and those who consented were tested. Results A total of 183 antenatal women were screened for hemoglobinopathies. Βeta thalassemia trait was detected in 23.5% of them. Among the 16 red blood cell (RBC) indices analyzed, Sehgal index and Mentzer index, both with sensitivities of 97.67%, were found to be suitable. Alert flag incorporated in the software of the analyzer to detect these indices helps not to miss samples to carry out HPLC. The spouses of women with ß thalassemia trait who underwent HPLC testing were 55.81%. A model screening program was designed. Conclusion  Antenatal testing by HPLC should be done on all mothers having microcytic hypochromic anemia without iron deficiency. Spouse testing of the woman who was carriers denotes the success of the antenatal screening program.

Dynamic Profile of Prognostic Hematologic Indicators in Patient Under Intensive Care for COVID-19 Disease: A One-Year Study at a Tertiary Care Centre in South India.

Introduction Viral pneumonia caused by severe acute respiratory syndrome coronavirus 2 (SARS COV-2) releases cytokines which result in neutrophils migration to the bloodstream and cytotoxic effect on lymphocytes. The ongoing pathology is reflected in the derangement of blood cells and the variations and calculations based on them that help in assessing the severity of the disease and prognosis. Aim This study aimed to compare the differences in the dynamic changes of the blood cells among survivors and non-survivors of COVID-19 disease so that cut-offs can be arrived at to aid triage at the intensive care unit (ICU) and to predict mortality.  Material and methods A one-year study was conducted on patients hospitalized in the ICU. The demography and laboratory values of neutrophils and lymphocytes in percentages and absolute values, and platelet count in numbers were retrieved for eight consecutive values. Neutrophil to lymphocyte ratio (NLR) and platelet to lymphocyte ratio (PLR) was calculated from absolute counts. Statistical analysis was done using the Chi-Square test and Mann-Whitney test and a P-value of <0.05 is considered significant. The comparison was done between survivors and non-survivors. Result Among the 3142 patients admitted for COVID-19 disease, 7.6% required ICU care of whom 65.5% survived and 35.5% succumbed to the illness. Survivors were younger and comparable between both sexes. Though both groups had an ascending trend of neutrophils, lymphocytes, NLR, and PLR, the baseline characteristics were significantly lower in those who survived on a day-to-day basis. Neutrophilia above 80%, NLR 7.96, PLR 200 predicted the need for admission in ICU. Neutrophilia of 87% and lymphopenia of 10% were associated with adverse outcomes (mortality). Mortality can be predicted when neutrophil rises above 93% or lymphocytes fall below 5.2%. An initial NLR of 7.96 and PLR of 160 as well as peak NLR of 12.29 and peak PLR 400 predict mortality. Conclusion Serial blood counts are essential for hospitalized patients with COVID-19 for early triaging, and to assess severity and prognosis. The NLR of 6.7 and PLR of 160 require intensive care. The dynamic increase of NLR and PLR show worsening of the disease process and NLR of 40.95 and PLR of 400 predict mortality.

Diagnostic Dilemma of an Umbilical Mass in a Newborn Infant - a Twin or a Tumor?

BACKGROUND: We present the diagnostic dilemma of a neonate with two umbilical soft tissue masses. Case report: The baby had an umbilical mass herniating through the umbilical cord, and another mass hanging from the umbilical mass by a string of tissue. Both masses were amorphous solid soft tissues and the hanging mass had hair on the surface. Clinical diagnosis was umbilical cord teratoma. However, histopathological examination of the masses showed that tissues representing various organs were arranged in cephalocaudal order as in a fetus, revealing that it was a parasitic twin. The hanging mass was probably the cephalic part and the umbilical mass was malformed torso and limbs. Conclusion: This parasitic omphalopagus heteropagus parasitic twin presented as two amorphous masses without externally identifiable anatomic structure, The parasitic twin of omphalopagus heteropagus may have unusual presentations. Histopathological examination was essential to diagnose whether it is a twin or a tumor.

Prognostic significance of receptor for hyaluronan acid-mediated motility (CD168) in acute pediatric leukemias - assessment of clinical outcome, post induction, end of treatment and minimal residual disease.

INTRODUCTION: The extracellular matrix protein hyaluronan acid plays an active in role in tumor cell proliferation and invasion. Hyaluronan acid receptors, namely CD168 or the receptor for hyaluronan acid-mediated motility (RHAMM) and CD44 have been implicated in promoting malignancy. There is a lacuna in data on the expression of the receptor in pediatric leukemias. METHODS: Pediatric patients with acute leukemia who were diagnosed, treated and followed up in our center were enrolled. The bone marrow biopsies performed prior to treatment were subjected to immunohistochemical staining (54 biopsies: acute lymphoblastic leukemia - 45, acute myeloid leukemia - 9). Blast counts were carried out at diagnosis, end of the induction phase and end of chemotherapy, the minimal residual disease was assessed and follow up details were collected. Positivity was correlated with initial blast count, post-induction blast count, minimal residual disease and patient survival. RESULTS: There was no correlation between the initial blast count and the percentage of blasts with RHAMM expression. The positive correlation between percentage of blasts expressing RHAMM and the post-induction blast count was moderate in acute myeloid leukemia (0.74) and mild in acute lymphoblastic leukemia (0.48). There was a statistically significant difference in RHAMM expression between the two minimal residual disease risk groups (p-value = 0.012) with a negative prognostic effect of RHAMM expression. Moreover, a negative prognostic effect of RHAMM expression was noted when patient survival was considered. CONCLUSION: This study shows that blasts in acute myeloid leukemia show more RHAMM positivity than those of acute lymphoblastic leukemia indicating the aggressive nature of this type of leukemia. In acute leukemias, patients with high percentages of RHAMM-positive blasts had more post-induction blasts, blasts in minimal residual disease and poorer prognosis.

Prognostic significance of receptor for hyaluronan acid-mediated motility (CD168) in acute pediatric leukemias - assessment of clinical outcome, post induction, end of treatment and minimal residual disease

ABSTRACT Introduction: The extracellular matrix protein hyaluronan acid plays an active in role in tumor cell proliferation and invasion. Hyaluronan acid receptors, namely CD168 or the receptor for hyaluronan acid-mediated motility (RHAMM) and CD44 have been implicated in promoting malignancy. There is a lacuna in data on the expression of the receptor in pediatric leukemias. Methods: Pediatric patients with acute leukemia who were diagnosed, treated and followed up in our center were enrolled. The bone marrow biopsies performed prior to treatment were subjected to immunohistochemical staining (54 biopsies: acute lymphoblastic leukemia - 45, acute myeloid leukemia - 9). Blast counts were carried out at diagnosis, end of the induction phase and end of chemotherapy, the minimal residual disease was assessed and follow up details were collected. Positivity was correlated with initial blast count, post-induction blast count, minimal residual disease and patient survival. Results: There was no correlation between the initial blast count and the percentage of blasts with RHAMM expression. The positive correlation between percentage of blasts expressing RHAMM and the post-induction blast count was moderate in acute myeloid leukemia (0.74) and mild in acute lymphoblastic leukemia (0.48). There was a statistically significant difference in RHAMM expression between the two minimal residual disease risk groups (p-value = 0.012) with a negative prognostic effect of RHAMM expression. Moreover, a negative prognostic effect of RHAMM expression was noted when patient survival was considered. Conclusion: This study shows that blasts in acute myeloid leukemia show more RHAMM positivity than those of acute lymphoblastic leukemia indicating the aggressive nature of this type of leukemia. In acute leukemias, patients with high percentages of RHAMM-positive blasts had more post-induction blasts, blasts in minimal residual disease and poorer prognosis.

Neonate with haemophagocytic lymphohistiocytosis secondary to dengue infection: a case report.

We report the first case of haemophagocytic lymphohistiocytosis (HLH) in a neonate secondary to primary Dengue virus infection. This neonate presented in the third week of life with fever, shock and hepatosplenomegaly and was diagnosed to have Dengue infection by serology and HLH was confirmed on bone marrow.

Co-Incidence or Co-Existence? Acute Lymphoblastic Leukaemia in HbE-alpha Thalassaemia: A Case Report with Review of Literature.

Haemoglobin E (HbE) is a Haemoglobin variant that commonly occurs in many places in Asia. As ß thalassaemia and α thalassaemia also occur in the same regions, the co-inheritance of these conditions leads to various phenotypic forms. HbE α thalassaemia is less common and of a milder phenotype than HbE ß thalassaemia. Though malignancies are one of the complications in thalassaemia, occurrence of leukaemia is a rare event. Here we present a case of a two-year-old male child co-presenting with pre B acute lymphoblastic leukaemia (ALL) with MLL rearrangement and HbE alpha thalassaemia. The child is on remission 12 months post-therapy with standard ALL high risk protocol with no minimal residual disease (MRD). Haematological and oncological conditions coexisting at presentation is a challenge to therapy. This case is described for its rarity. Informed consent has been obtained from the parents.

Biological Reference Interval for Hematological Profile of Umbilical Cord Blood: A Study Conducted at A Tertiary Care Centre in South India.

INTRODUCTION: Umbilical cord blood (UCB) a source of hematopoietic stem cells, is also an acceptable sample to assess neonatal sepsis. Though reports are available for stem cell counts very minimal literature is available regarding hematologic parameters, which may vary on ethnicity. AIM: To establish biological reference interval for hematological parameters of umbilical cord blood to guide neonatologists, hematopoietic stem cell transplant specialists and future analysis. MATERIALS AND METHODS: Prospective longitudinal study was done from January 2014 to April 2014 after ethics committee approval. UCB from 120 full term new borns of normal birth weight born out of uneventful pregnancy to mothers aged between 21 to 45 years with hemoglobin above 10g/dL were processed in Beckman Coulter LH780 analyzer for complete blood count and counter checked by peripheral smear. Results tabulated in Microsoft excel are analyzed using IBM SPSS statistics 16 software. RESULTS: Male to female ratio is 1:1.05. There is no difference in the values between males and females. When compared with few studies available, though many values are comparable a few values are not comparable. CONCLUSION: This study can be a useful guide to neonatologists, hematopoietic stem cells transplant hematologists and future analysis.

Pancytopenia - (?) An obstacle in the diagnosis and outcome of pediatric acute lymphoblastic leukemia.

CONTEXT: Acute lymphoblastic leukemia (ALL) ranks first among pediatric malignancies. 8-12% of ALL present with pancytopenia and 2% with hypocellular marrow a. Diagnosis of ALL in the background of pancytopenia and aplastic bone marrow is difficult. AIMS: This study was aimed to compare the clinicopathologic, genetic, and outcome of paediatric ALL patients with and without pancytopenia. SETTINGS AND DESIGN: This is a retrospective cross-sectional study. SUBJECTS AND METHODS: The study included all ALL patients presenting with pancytopenia. The control group included equal number of randomly selected patients with ALL without pancytopenia treated during the same period. Ethics committee approved this study. The demographic, laboratory, and treatment-related details were retrieved from the records and entered in an Excel sheet. STATISTICAL ANALYSIS USED: Data was analyzed with Chi-square test with IBM SPSS statistics 16 software. RESULTS: Diagnosis by peripheral smear is significantly lower (P = 0.015) in comparison with the control group. There is no significant difference in diagnosis between the groups by bone marrow aspirate (P = 0.731) and biopsy (P = 0.849). The diagnosis of leukemia is misdiagnosed as hypo cellular/aplastic marrow in 10% of the pancytopenic patients. Flow cytometry yielded the diagnosis in all the pancytopenic patients. Though cytogenetic abnormalities are more common in pancytopenic group, it is not statistically significant (P = 0.106). There is no significant difference in treatment outcome between the groups (P = 0.0827%). CONCLUSIONS: Clinical expertise is highly essential to evaluate a case of pancytopenia to diagnose leukemia. Pancytopenia is an obstacle in the diagnosis of ALL without immunophenotyping. There is no significant difference in the outcome between the two groups.

Is it essential to inform the positive donor? A 2-year study in a tertiary care hospital.

BACKGROUND: In India, screening of blood for human immunodeficiency virus (HIV), hepatitis B surface antigen (HBsAg), and hepatitis C virus (HCV) is mandatory before issue, but the donors are often not informed of their positive status.[1] The positive donors are always kept in dark. Is it essential to inform the positive donor? It is a debate still. MATERIALS AND METHODS: Sri Ramachandra Blood Bank, Chennai, took the challenge of posttest counseling of blood donors from June 2008. Blood collected from donors were screened for HIV, HBsAg, and HCV. The donors of the blood, which are positive by two different enzyme-linked immunosorbent assay for any of the above tests, were sent a letter of calling respecting their rights and maintaining confidentiality. Responded donors were given counseling and offered information about confirmation, evaluation, consultation, early treatment, follow-up, contact testing, and transmission prevention. The results were analyzed for a period of 2 years from June 2008 to May 2010. RESULTS: Among the 22,573 donors, 355 (1.7%) were found to be positive in the screening tests. Letters of calling were sent to 310 (87.04%) donors. In all, 218 (70.3%) donors with 7 (87.5%) HIV, 199 (68.85%) HBsAg, and 12 (92.31%) HCV positivity responded. None of the responded donors knew their status earlier. In all, 82 (35%) of them were repeat donors with 201 earlier donations at various blood banks. CONCLUSION: Posttest counseling of positive donors is essential for the health of the donor and his family, prevention of diseases, improving blood bank economy, and reducing exposure to healthcare workers.