Publications by authors named "Manu Jamwal"

24 Publications

  • Page 1 of 1

Next-Generation Sequencing Based Approach to Identify Underlying Genetic Defects of Glanzmann Thrombasthenia.

Indian J Hematol Blood Transfus 2021 Jul 24;37(3):414-421. Epub 2020 Oct 24.

Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012 India.

Glanzmann thrombasthenia (GT) is an autosomal recessive platelet function disorder characterized by mucocutaneous bleeding as the most common clinical phenotype. Patients with GT have normal platelet counts, platelet morphology but reduced platelet aggregation in response to various agonists. Homozygosity or compound heterozygosity for variants in the genes is the genetic basis for GT. Establishing a molecular diagnosis is definitive and is important for predictive testing. Using multi-gene panels is an accurate, faster, and cost-effective mode as compared to Sanger sequencing in large genes. We used a targeted resequencing based approach to identify pathogenic variants in eight cases in seven families. These variants were validated using Sanger sequencing in patients as well as family members and were predicted probably pathogenic using prediction tools. The variants include three missense (3/7 = 43%) (c.1028 T > C, c.1186G > A, c.1388G > C), two deletions (c.559delG, c.3092delT), one duplication (c.1424_1427dupAGGT) and nonsense variant (c.2578C > T, p.Gln860Ter). Except for one case which was compound heterozygous, the rest of the cases were homozygous. We found two novel variants that are reported for the first time in GT. The targeted resequencing based approach revealed varied genetic variants in North Indian patients, including two novels ones. The high yield of our panel indicates its suitability for usage in larger cohorts for the genetic diagnosis of GT patients. This approach is cost-effective and less cumbersome as compared to Sanger sequencing for these large size genes with multiple exons. The information so obtained is helpful in prenatal testing, carrier analysis, and genetic counseling.
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http://dx.doi.org/10.1007/s12288-020-01368-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8239080PMC
July 2021

Autosomal dominant familial periodic fever patient with a missense variant c.215G>A (p.Cys72Tyr) in TNFRSF1A gene presenting as neutrophilia.

Eur J Med Genet 2021 May 19;64(5):104191. Epub 2021 Mar 19.

Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh 160012, India. Electronic address:

Familial periodic fever (FPF) is an uncommonly diagnosed autosomal dominant disorder caused by a genetic alteration in the TNFRSF1A gene. These patients usually present with fever which is usually under-investigated and under-diagnosed. In untreated cases, amyloidosis is a frequent complication. We present a 24 years male who had a history of fever from childhood, however, remained undiagnosed short of genetic testing. He has recurrent episodes of fever. During the episodes of fever, he was found to have leukocytosis (total leukocyte count- 25.7 x10^9/L) and neutrophilia (absolute neutrophil count- 22.7 x10^9/L) both of which came back to normal limits as the fever subsided. On further evaluation for neutrophilia, the exclusion of common causes of neutrophilia was done. Next-generation sequencing detected a missense variant in TNFRSF1A: c.215G > A (p.Cys72Tyr) which was confirmed by Sanger sequencing. This variant has been described in the literature in anecdotal cases of FPF. This is a first case report from the Indian subcontinent reporting TNFRSF1A: c.215G > A (p.Cys72Tyr) variant in a patient of FPF. Short of genetic testing, the fever would remain a diagnostic dilemma in this patient. This report highlights the importance of targeted resequencing in clinching diagnosis in such patients.
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http://dx.doi.org/10.1016/j.ejmg.2021.104191DOI Listing
May 2021

Clericuzio-type poikiloderma with neutropenia in a patient from India.

Am J Med Genet A 2021 01 27;185(1):278-281. Epub 2020 Oct 27.

Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

A 9-year-old boy presented for evaluation of variegated skin pigmentation. Palms and soles revealed honeycombed hyperpigmented hyperkeratosis. Irregular, firm, skin coloured nodules suggestive of cutaneous calcification were present on both elbows. Total leucocyte count and absolute neutrophil count were 3720/mm3 and 420/mm3 respectively. The neutropenia was not cyclical. Systematic analysis of the whole exome data revealed a homozygous mutation in USB1 gene; chr16:g.58043892TA>-[1/1]. A final diagnosis of poikiloderma with neutropenia- Clericuzio type (PNC) was made. Naegeli Franceschetti Jadassohn, dermatopathia pigmentosa reticularis, PNC and dyskeratosis congenita, all can present with overlapping cutaneous manifestations. Subtle clinical details like thickened nails, hyperextensible joints, calcinosis cutis, characteristic facies and a preceding erythematopapular rash strongly favor the diagnosis of PNC. The index case highlights two novel findings: obliterated dermatoglyphics and mucin deposition (features not described hitherto in PNC).
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http://dx.doi.org/10.1002/ajmg.a.61943DOI Listing
January 2021

Hemolytic erythrocytosis: an amalgamated phenotype from coinherited Chuvash polycythemia and G6PD Kerala-Kalyan with acquired transient stomatocytosis.

Ann Hematol 2021 Aug 8;100(8):2107-2109. Epub 2020 Oct 8.

Department of Hematology, Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh, 160012, India.

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http://dx.doi.org/10.1007/s00277-020-04295-wDOI Listing
August 2021

Congenital dyserythropoietic anemia type IV with high fetal hemoglobin caused by heterozygous KLF1 p.Glu325Lys: first report in an Indian infant.

Ann Hematol 2021 Jan 27;100(1):281-283. Epub 2020 Mar 27.

Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India.

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http://dx.doi.org/10.1007/s00277-020-03982-yDOI Listing
January 2021

Next-Generation Sequencing-Based Diagnosis of Unexplained Inherited Hemolytic Anemias Reveals Wide Genetic and Phenotypic Heterogeneity.

J Mol Diagn 2020 04 6;22(4):579-590. Epub 2020 Feb 6.

Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India. Electronic address:

Determination of the cause of inherited hemolysis is based on clinical and stepwise conventional laboratory tests. Patients with obscure etiology require genetic diagnosis, which is time-consuming, expensive, and laborious, mainly because of numerous causal genes. This study enrolled 43 patients with clinical and laboratory evidence of unexplained hemolytic anemia. Initially, 13 patients were tested using a commercial (TruSight One) panel, and remaining cases underwent targeted sequencing using a customized 55-gene panel. Pyruvate kinase deficiency was found in eight, glucose-6-phosphate dehydrogenase (G6PD) deficiency in three (G6PD Guadalajara in two and p.Tyr227Ser: novel, named as G6PD Chandigarh), and glucose-6-phosphate isomerase (GPI) deficiency in two (GPI:p.Arg347His and p.Phe304Leu: novel, named as GPI Chandigarh). Three patients had Mediterranean stomatocytosis/macrothrombocytopenia, and two had overhydrated stomatocytosis. Xerocytosis was found in three patients, whereas six had potentially pathogenic variants in membrane protein-coding genes. Overall, 63% cases received a definite diagnosis. Timely determination of etiology was helpful in diagnosis, genetic counseling, and offering a prenatal diagnosis. Therapeutic implications include performing or avoiding splenectomy that may ameliorate the anemia in many but also predispose to thrombosis in other groups of patients. This first study on the genetic spectrum of unexplained hemolytic anemia from the Indian subcontinent also represents, currently, one of the largest cohort worldwide of such patients.
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http://dx.doi.org/10.1016/j.jmoldx.2020.01.007DOI Listing
April 2020

Phenotypic and genetic heterogeneity arising from a novel substitution at amino acid position Val205 in GATA1 related X-linked thrombocytopenia with dyserythropoietic anemia.

Blood Cells Mol Dis 2020 03 30;81:102391. Epub 2019 Nov 30.

Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh 160012, India. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2019.102391DOI Listing
March 2020

Laboratory Approach to Hemolytic Anemia.

Indian J Pediatr 2020 01 10;87(1):66-74. Epub 2019 Dec 10.

Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India.

Hemolytic anemias are a group of disorders with varied clinical and molecular heterogeneity. They are characterized by decreased levels of circulating erythrocytes in blood. The pathognomic finding is a reduced red cell life span with severe anemia or, compensated hemolysis accompanied by reticulocytosis. The diagnostic workup or laboratory approach for hemolytic anemias is based on methodical step-wise testing which includes red blood cell morphology, hematological indices with increased reticulocyte count along with clinical features of hemolytic anemias. If conventional laboratory tests are unable to detect the underlying cause of hemolysis, genetic testing is recommended. Sanger sequencing along with conventional testing is the most efficient way to diagnose the underlying genetic causes, especially in thalassemias/hemoglobinopathies, if required. However, hemolytic anemias being highly heterogeneous disorders, next-generation sequencing-based screening is rapidly becoming an efficient way to decipher the etiologies where common causes have been excluded.
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http://dx.doi.org/10.1007/s12098-019-03119-8DOI Listing
January 2020

Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next-generation sequencing: First South Asian study.

Br J Haematol 2020 03 10;188(5):784-795. Epub 2019 Oct 10.

Department of Haematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Defects in various erythrocyte membrane proteins genes (ankyrin, band-3, β- and α-spectrin and protein 4·2) can cause hereditary spherocytosis (HS). This molecular heterogeneity of HS, together with co-inherited genetic modifiers, results in marked phenotypic variability among patients. We studied the molecular spectrum and genotype-phenotype correlations in 73 families (with 113 patients) with HS. Deleterious variants including nonsense (42%), deletions (18%), splice site (20%), missense (10%) and duplication/insertion (10%) were found in 47 patients. The variants detected included sporadic and dominantly-inherited defects in ANK1 (53·2%), SPTB (36·2%) and SLC4A1 (4·2%). Compound heterozygous variants in SPTA1 (6·4%) showed autosomal recessive inheritance. Alpha-spectrin variants were associated with severe anaemia and splenectomy alleviated symptoms. Co-inherited glucose-6-phosphate dehydrogenase (G6PD) deficiency was found in 15%. G6PD variants (n = 5) led to greater transfusion requirements (1-8 times) in males with HS. Homozygosity (41%) for the promoter variant of UGT1A1 (Gilbert syndrome) led to a significantly higher mean bilirubin level (126·54 µmol/l) with a higher frequency of cholelithiasis (30%) (P < 0·001). This first-ever south Asian study on the molecular spectrum of HS found ANK1 and SPTB genes variants to be the commonest with inheritance being sporadic/dominant. Next-generation sequencing provided a relatively sensitive and rapid tool for molecular diagnosis with a diagnostic yield of 64·4%.
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http://dx.doi.org/10.1111/bjh.16244DOI Listing
March 2020

A nonsense variant in the Hexokinase 1 gene (HK1) causing severe non-spherocytic haemolytic anaemia: genetic analysis exemplifies ambiguity due to multiple Isoforms.

Br J Haematol 2019 09 23;186(5):e142-e145. Epub 2019 May 23.

Department of Haematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

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http://dx.doi.org/10.1111/bjh.15981DOI Listing
September 2019

A novel germline mutation with co-occurrence of somatic alterations in a case of myeloid neoplasm with familial thrombocytopenia: first report from India.

Leuk Lymphoma 2019 10 16;60(10):2568-2571. Epub 2019 Apr 16.

Department of Hematology, Post Graduate Institute of Medical Education and Research , Chandigarh , India.

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http://dx.doi.org/10.1080/10428194.2019.1587756DOI Listing
October 2019

First report of homocystinuria-megaloblastic anaemia, cobalamin E complementation type, in an Indian child.

Pathology 2019 Jan 19;51(1):95-98. Epub 2018 Nov 19.

Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India. Electronic address:

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http://dx.doi.org/10.1016/j.pathol.2018.07.008DOI Listing
January 2019

Adult onset hereditary hemochromatosis is associated with a novel recurrent Hemojuvelin (HJV) gene mutation in north Indians.

Blood Cells Mol Dis 2018 11 27;73:14-21. Epub 2018 Aug 27.

Department of Hematology, Postgraduate Institute of Medical, Education & Research, Chandigarh, India. Electronic address:

Hereditary hemochromatosis (HH) is a rare disorder in Indians and is not associated with the common mutation Cys282Tyr in HFE gene found in Caucasians. Non-HFE HH can be associated with mutations in HJV, HAMP, TFR2 and SLC40A1 genes. Nineteen unrelated north Indian HH patients were detected after screening 258 chronic liver disease patients on the basis of increased transferrin saturation, ferritin levels >1000 ng/L and siderosis by Perl's stain on liver biopsy wherever available. Automated DNA sequencing was performed for the promoters and entire coding exons for HFE, HJV, HAMP, TFR2 and SLC40A1. A novel homozygous mutation at position p.Gly336Ter (c.1006 G>T) in exon 4 in HJV was identified in four adult unrelated patients. We encountered compound heterozygosity for p.Thr217Ile (c.650C>T) and p.His63Asp (c.187C>G) mutation of HFE gene in one patient. Two patients were compound heterozygous for two novel polymorphisms at c.-358 (G>A) and c.-36 (G>A) in 5'UTR of HJV gene. Our study shows a novel HJV gene mutation p.Gly336Ter as a recurrent mutation associated with HH in north Indians. Low index of suspicion, underlying nutritional iron deficiency and protective effect of menstrual blood loss may account for the late clinical presentation of juvenile HH.
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http://dx.doi.org/10.1016/j.bcmd.2018.08.003DOI Listing
November 2018

Homozygous KLF1 mutation c.901C>T (p.Arg301Cys) resulting in mild thalassemia intermedia in an Indian: A next-generation sequencing diagnosis.

Blood Cells Mol Dis 2018 09 28;72:19-21. Epub 2018 Jun 28.

Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh 160012, India. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2018.06.003DOI Listing
September 2018

Overhydrated stomatocytosis associated with a complex genotype including a novel mutation.

J Clin Pathol 2018 Jul 20;71(7):648-652. Epub 2018 Mar 20.

Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Overhydrated stomatocytosis is a rare autosomal dominant disorder known to cause variably severe haemolytic anaemia due to heterozygous mutations in the gene. We report a 26-year-old man with recurring jaundice, splenohepatomegaly and mild chronic haemolytic anaemia with significant stomatocytosis. Extensive haemolytic work-up including flow cytometry for eosin-5'-maleimide and CD47 expression levels was carried out. Targeted resequencing revealed two probably causative heterozygous mutations in (Leu336Ser and Ile149Met) and one heterozygous mutation in (Glu1046Lys) involvement was confirmed by decreased RhAG macrocomplex component indicated by the reduced CD47 expression on erythrocytes. analysis concordantly flagged :Leu336Ser and :Glu1046Lys as likely deleterious mutation, whereas :Ile149Met was reported as likely neutral by PROVEAN. Family screening by Sanger sequencing revealed :Leu336Ser in a mother and :Glu1046Lys in a father who were both asymptomatic, excluding them as causative dominant events, thus establishing :Ile149Met, novel mutation as probably causative. This case illustrates the importance of family screening in interpreting next-generation sequencing (NGS) data, as in silico analysis alone can be misleading. Erudite generation of diagnostic possibilities based on a thorough baseline clinical and laboratory work-up remains as important as ever, even as NGS brings about a paradigm shift in the diagnostic work-up of rare haemolytic anaemias.
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http://dx.doi.org/10.1136/jclinpath-2018-205018DOI Listing
July 2018

Optimal Reference Gene Selection for Expression Studies in Human Reticulocytes.

J Mol Diagn 2018 05 21;20(3):326-333. Epub 2018 Feb 21.

Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India. Electronic address:

Reference genes are indispensable for normalizing mRNA levels across samples in real-time quantitative PCR. Their expression levels vary under different experimental conditions and because of several inherent characteristics. Appropriate reference gene selection is thus critical for gene-expression studies. This study aimed at selecting optimal reference genes for gene-expression analysis of reticulocytes and at validating them in hereditary spherocytosis (HS) and β-thalassemia intermedia (βTI) patients. Seven reference genes (PGK1, MPP1, HPRT1, ACTB, GAPDH, RN18S1, and SDHA) were selected because of published reports. Real-time quantitative PCR was performed on reticulocytes in 20 healthy volunteers, 15 HS patients, and 10 βTI patients. Threshold cycle values were compared with fold-change method and RefFinder software. The stable reference genes recommended by RefFinder were validated with SLC4A1 and flow cytometric eosin-5'-maleimide binding assay values in HS patients and HBG2 and high performance liquid chromatography-derived percentage of hemoglobin F in βTI. Comprehensive ranking predicted MPP1 and GAPDH as optimal reference genes for reticulocytes that were not affected in HS and βTI. This was further confirmed on validation with eosin-5'-maleimide results and percentage of hemoglobin F in HS and βTI patients, respectively. Hence, MPP1 and GAPDH are good reference genes for reticulocyte expression studies compared with ACTB and RN18S1, the two most commonly used reference genes.
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http://dx.doi.org/10.1016/j.jmoldx.2018.01.009DOI Listing
May 2018

First report of Mediterranean stomatocytosis/macrothrombocytopenia in an Indian family: a diagnostic dilemma.

Pathology 2017 Dec 26;49(7):811-815. Epub 2017 Oct 26.

Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India. Electronic address:

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http://dx.doi.org/10.1016/j.pathol.2017.06.010DOI Listing
December 2017

Coagulation F13A1 V34L, fibrinogen and homocysteine versus conventional risk factors in the pathogenesis of MI in young persons.

Acta Cardiol 2018 Aug 5;73(4):328-334. Epub 2017 Oct 5.

c Department of Cardiology , Postgraduate Institute of Medical Education and Research , Chandigarh , India.

Background: The pathogenesis of myocardial infarction (MI) involves environmental and genetic risk factors, with the latter putatively playing significant roles in younger patients. Genetic variability in coagulation factors comprises one such group. The coagulation factor 13 subunit A (F13A1) Val34Leu polymorphism (rs5985) has yielded variable findings in literature, with no prior South Asian data.

Methods: We studied the frequency of this polymorphism using the amplification-created restriction-enzyme site (ACRES) polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) in 101 MI patients aged below 40 years and 103 controls along with plasma fibrinogen and serum homocysteine levels.

Results: The distribution of Val/Val, Val/Leu and Leu/Leu genotypes was similar among cases (72.3%, 26.7% and 1.0%) and controls (78.6%, 19.4% and 1.9%, respectively). Val and Leu allele frequencies were 85.6% and 14.4% among patients and 88.3% and 11.7% among controls, respectively (p = .416). Mean plasma fibrinogen was higher in patients vis-à-vis controls (3.1 versus 3.7 g/l; p < .001) but homocysteine was elevated in both patients (52%) and controls (67%) (p = .225). Multivariate analysis revealed hypertension (p < .001, OR 6.16) and smoking (p < .001, OR 5.48) to impart strongest risk followed by positive family history, plasma fibrinogen levels and male gender.

Conclusions: Despite its small sample size, this first South Asian study suggests neither protective nor deleterious effects of the F13A1 Val34Leu polymorphism on the risk of MI in young persons. The Leu allele frequency is intermediate to that reported from the West and the Far East. Traditional risk factors contribute greatly to risk even in younger MI patients in South Asia.
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http://dx.doi.org/10.1080/00015385.2017.1384172DOI Listing
August 2018

Next-generation sequencing unravels homozygous mutation in glucose-6-phosphate isomerase, GPIc.1040G>A (p.Arg347His) causing hemolysis in an Indian infant.

Clin Chim Acta 2017 May 20;468:81-84. Epub 2017 Feb 20.

Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh 160012, India. Electronic address:

Introduction: Inherited anemias diagnostic workup requires a step-wise algorithm. Causal genes implicated in congenital hemolytic anemia are numerous, making a gene-by-gene approach by Sanger sequencing time consuming, expensive and labour intensive. Targeted resequencing can be of great use in explaining these cases.

Methodology: Six months female presented with neonatal jaundice and negative family history. Clinical and laboratory evidences were suggestive of hemolytic anemia. G6PD deficiency, thalassemias, hemoglobinopathies, autoimmune hemolytic anemia, hereditary spherocytosis and pyruvate kinase deficiency were excluded. Targeted resequencing on Illumina MiSeq using TruSight One sequencing panel was performed to identify the causative mutations.

Results: 35-40% of RBCs were acanthocytes and echinocytes. A missense homozygous mutation was found inglucose-6-phosphate isomerase, GPI [c.1040G>A (p.Arg347His), rs137853583] which results in nonspherocytic hemolytic anemia.

Conclusion: This study describes GPI p.Arg347His mutation for the first time from India and is the first report of red cell GPI deficiency diagnosed using NGS-based resequencing and highlights the potential of this technique in clinical practice.
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http://dx.doi.org/10.1016/j.cca.2017.02.012DOI Listing
May 2017

Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three cases.

Clin Chim Acta 2016 Jul 20;458:51-4. Epub 2016 Apr 20.

Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh 160012, India. Electronic address:

Background: Hereditary spherocytosis (HS) is a common inherited hemolytic anemia characterized by heterogeneous clinical presentations with variable degrees of anemia, jaundice, splenomegaly and gallstones. Although the underlying genetic defects in red cell membrane proteins may explain many phenotypic variations, a proportion of variability may be due to other co-inherited factors like enzymopathies, thalassemias and Gilbert syndrome. Associations of HS with glucose-6-phosphate dehydrogenase (G6PD) deficiency and Gilbert syndrome in isolation have been reported previously.

Methods: We describe 3 adult cases of HS with concomitant Gilbert syndrome and G6PD-Mediterranean mutations (2 hemizygous males, aged 15 and 35y and 1 heterozygous 25-y female).

Results: Two patients required multiple transfusions that required splenectomy for management. One patient (15y male) also carried the single gene alpha 4.2 deletion and was less symptomatic.

Conclusions: These cases illustrate the importance of clinico-pathological correlation and judicious extended testing for various contributing factors that may modify the clinical course of HS patients. G6PD deficiency is also a common enzymopathy in India and can contribute to the phenotypic heterogeneity. Its recognition is important for advising avoidance of oxidizing drug exposure.
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http://dx.doi.org/10.1016/j.cca.2016.04.020DOI Listing
July 2016

Proteome analysis of functionally differentiated bovine (Bos indicus) mammary epithelial cells isolated from milk.

Proteomics 2013 Nov 1;13(21):3189-204. Epub 2013 Oct 1.

Animal Biotechnology Center, National Dairy Research Institute (NDRI), Karnal, India.

Mammary gland is made up of a branching network of ducts that end in alveoli. Terminally differentiated mammary epithelial cells (MECs) constitute the innermost layer of aveoli. They are milk-secreting cuboidal cells that secrete milk proteins during lactation. Little is known about the expression profile of proteins in the metabolically active MECs during lactation or their functional role in the lactation process. In the present investigation, we have reported the proteome map of MECs in lactating cows using 2DE MALDI-TOF/TOF MS and 1D-Gel-LC-MS/MS. MECs were isolated from milk using immunomagnetic beads and confirmed by RT-PCR and Western blotting. The 1D-Gel-LC-MS/MS and 2DE-MS/MS based approaches led to identification of 431 and 134 proteins, respectively, with a total of 497 unique proteins. Proteins identified in this study were clustered into functional groups using bioinformatics tools. Pathway analysis of the identified proteins revealed 28 pathways (p < 0.05) providing evidence for involvement of various proteins in lactation function. This study further provides experimental evidence for the presence of many proteins that have been predicted in annotated bovine genome. The data generated further provide a set of bovine MEC-specific proteins that will help the researchers to understand the molecular events taking place during lactation.
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http://dx.doi.org/10.1002/pmic.201300031DOI Listing
November 2013

Effect of micronutrient supplementation around calving on the plasma cortisol levels of Murrah buffaloes and Sahiwal and Karan Fries cows.

Trop Anim Health Prod 2013 Apr 2;45(4):1047-50. Epub 2012 Nov 2.

National Dairy Research Institute, Karnal, 132 001, Haryana, India.

Micronutrients when fed around peripartum may reduce the stress induced by cortisol. With this objective, 24 Sahiwal (SW) and 24 Karan Fries (KF) cows and 24 Murrah (Mu) buffaloes were taken and divided into four groups of six each. Vitamin E (VE), zinc (Zn) and copper were supplemented from 30 days pre- to 30 days postcalving in groups 1, 2 and 3. Animals without supplementation served as control. Blood sampling was done on days 30, 15, 7 and 3 precalving; at calving; and on days 3, 7, 15 and 30 postcalving. Plasma cortisol levels were measured by ELISA. Supplementation of VE and Zn significantly (P<0.05) reduced plasma cortisol levels at calving and at 30 days postcalving. KF cows exhibited best results with VE, whereas SW cows and Mu buffaloes responded best to Zn. Copper increased the peripartum cortisol levels. Reduction in cortisol levels may help in keeping the animal healthy and stronger to fight immuno-suppression generally observed around the period of peripartum.
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http://dx.doi.org/10.1007/s11250-012-0302-2DOI Listing
April 2013