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

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.

Impact of iron deficiency on hemoglobin A2% in obligate β-thalassemia heterozygotes.

Introduction: The potential impact of concomitant iron deficiency on hemoglobin A2 (HbA2)-based identification of β-thalassemia trait (βTT) is a worrisome issue for screening laboratories. This is especially true for resource-constrained settings where iron deficiency is widespread and molecular confirmatory tests for borderline low HbA2 values may be unavailable.

Methods: Obligate βTT carrier individuals (n = 752) were identified during screening studies on the parents of thalassemia major patients.

Iron deficiency anemia in children presenting with lymphoreticular malignancies and the effect of induction therapy.

There is scant information regarding iron deficiency in children with malignant disorders. Serum iron status of children with lymphoreticular malignancies (LRMs) at onset and at the end of induction therapy, compared to the normal population, was evaluated. Prospective cohort study conducted between July 2002 and March 2004.

Iron status at birth and at 4 weeks in preterm-SGA infants in comparison with preterm and term-AGA infants.

Objective: To determine the iron status at birth in preterm small for gestational age (SGA) in comparison with preterm appropriate for gestation (AGA) and term-AGA infants.

Methods: Mother-infant pairs with gestation of < 37 weeks, both SGA, and preterm-AGA and term-AGA as control were enrolled. Maternal, cord blood and infant blood samples at 4 weeks were obtained for various iron indices - cord serum ferritin, proportion of infants with "low" serum ferritin, serum ferritin at 4 weeks and correlation among maternal and neonatal iron indices - hemoglobin,serum ferritin and total iron-binding capacity.

Iron status at birth and at 4 weeks in term small-for-gestation infants in comparison with appropriate-for-gestation infants.

Objective: To determine body iron stores at birth in term small-for-gestational age (SGA) infants as compared to appropriate-for-gestational age (AGA) infants.

Methods: In this prospective study, mother-infant pairs with gestation of  ≥ 37 weeks and birth weight of at least 1.5 kg were enrolled.

Hyperfibrotic myelodysplastic syndrome: a report of three cases from north India.

Extensive fibrosis in myelodysplastic syndromes (MDS) is distinctly infrequent. Herein, we report three rare cases of hyperfibrotic MDS. This entity should be classified separately in the chronic myeloproliferative disease (CMPD)-MDS group due to variable clinical presentation and poor prognosis.

Acute leukemia/myelodysplastic syndrome as a sequelae of carcinoma breast: a report of five cases from north India.

A second malignant neoplasm has been found to be more frequent than might be expected from the general population rates. Therapy-related myelodysplastic syndrome and acute leukemia are dreaded long-term complications of five cases of hematological malignancies following treatment for successful breast cancer therapy (therapeutic drugs or radiotherapy). We encountered carcinoma from north India over a 7-year period from 1999 to 2005.

Donor blood glucose 6-phosphate dehydrogenase deficiency reduces the efficacy of exchange transfusion in neonatal hyperbilirubinemia.

Objectives: Acute intravascular hemolysis after exchange transfusion with glucose 6-phosphate dehydrogenase-deficient blood has been reported; however, it is not routine to screen donor blood for glucose 6-phosphate dehydrogenase deficiency while performing exchange transfusion. We hypothesized that exchange transfusion with glucose 6-phosphate dehydrogenase-deficient blood would lead to a less-than-expected decrease in total serum bilirubin. The objective of this study was to evaluate the effect of exchange transfusion with glucose 6-phosphate dehydrogenase-deficient blood in neonates with idiopathic hyperbilirubinemia on postexchange total serum bilirubin levels, duration of phototherapy, and need for repeat exchange transfusions.

Serum transferrin receptor-ferritin index shows concomitant iron deficiency anemia and anemia of chronic disease is common in patients with rheumatoid arthritis in north India.

Anemia is a frequent cause of morbidity in patients with rheumatoid arthritis (RA). We studied the prevalence of anemia of chronic disorders (ACD) and ACD with coexistent iron deficiency anemia (IDA) in patients with RA using sTfR/log ferritin ratio (sTfR - F index). Complete blood counts, percent transferrin saturation, serum ferritin, sTfR, sTfR-F index measurements were carried out in 100 anemic RA patients.

The clinical significance of the spectrum of interactions of CAP+1 (A-->C), a silent beta-globin gene mutation, with other beta-thalassemia mutations and globin gene modifiers in north Indians.

Objectives: To assess the clinical significance of the interactions of CAP+1 (A-->C), a silent beta-globin gene mutation, with other beta-thalassemia mutations and globin gene modifiers in north Indians.

Methods: The clinical phenotypes associated with compound heterozygosity for the CAP+1 (A-->C) mutation with other beta-thalassemia mutations, together with the potential effect of the genetic modifiers alpha-thalassemia and the Xmn-1(G)gamma C-->T polymorphism were studied in 30 patients. The frequency of the CAP+1 (A-->C) polymorphism was determined and an analysis of the red cell indices, HbA(2) levels, iron status, and alpha-globin genes was carried out in 35 heterozygotes.

Frequency of primary iron overload and HFE gene mutations (C282Y, H63D and S65C) in chronic liver disease patients in north India.

Aim: To identify the frequency of iron overload and study the three mutations in the HFE gene (C282Y, H63D, and S65C) in patients with chronic liver disorders (CLD) and controls.

Methods: To identify patients with iron overload (transferrin saturation > 45% in females and > 50% in males and serum ferritin > 1000 ng/mL) we evaluated 236 patients with CLD, including 59 with non-alcoholic steatohepatitis (NASH), 22 with alcoholic liver disease (ALD), 19 of cirrhosis due to viruses (HBV, HCV), and 136 with cryptogenic cirrhosis. Mutations of the HFE gene were analyzed by PCR-RE.

Role of FAB classification of acute leukemias in era of immunophenotyping.

French-American-British classification for leukemias had been widely accepted due to its objectiveness and good reproducibility. WHO classification of leukemias was formulated in 1997 with a purpose of further enhancing the objectivity. However, the requirement of cytogenetics and immunophenotyping makes it difficult for many countries like India to put WHO classification in routine use.

Multiple constitutional aetiological factors in bone marrow failure syndrome (BMFS) patients from north India.

Background And Objectives: A large number of patients diagnosed with bone marrow failure syndromes (BMFS), comprising aplastic anaemia (AA) and myelodysplastic syndromes (MDS), remain aetiologically uncharacterized worldover, especially in resource constrained set up. We carried out this study to identify a few constitutional causes in BMFS patients attending a tertiary care hospital in north India.

Methods: Peripheral blood lymphocyte cultures were performed (with and without clastogens) in a cohort of 135 consecutive BMFS patients, in order to detect Fanconi anaemia (FA), Down's syndrome (+21), trisomy 8 (+8) and monosomy 7 (-7).

Hairy cell leukemia-variant--a case report.

Hairy-cell leukemia-variant (HCL-V) is a rare B-cell disorder which accountsfor 10% of HCL cases. The main features are splenomegaly, lymphocytosis and cytopenias without monocytopenia. The circulating cells have a morphology intermediate between prolymphocytes and hairy cells.

True hermaphroditism: clinical profile and management of six patients from North India.

True hermaphroditism (TH) is an uncommon cause of genital ambiguity. This is a retrospective compilation of six cases of true hermaphroditism seen at our institute over the last one and a half decades. Clinical presentation was wide-ranging, with age at presentation varying from 2 months to 41 years and symptoms ranging from ambiguous genitalia to a lower abdominal mass.

The utility of bone marrow examination in renal transplantation: nine years of experience from north India.

Renal transplantation may be complicated by persistent fever and cytopenia. Bone marrow examination, though painful and invasive, may be of value because it can be performed in most peripheral hospitals, and the results are rapidly available. In a retrospective analysis, clinical records, marrow aspirates, and trephine biopsies were assessed to determine the indications for bone marrow examination and the findings in 132 patients over a 9-year period.

Automated reticulocyte response is a good predictor of bone-marrow recovery in pediatric malignancies.

The authors attempted to establish the benefits of flow cytometry-based reticulocyte analysis over absolute neutrophil count (ANC) recovery. Serial hemograms of 18 pediatric cases of hematologic malignancies were analyzed until day 35 of chemotherapy. Immature reticulocyte fraction (IRF) showed early recovery in 44.

Myxomatous stromal changes and necrosis of bone marrow--a retrospective study of 3 years.

Myxomatous stromal changes and bone marrow necrosis (BMN) are uncommon histologic findings. These changes have been found in various conditions like disseminated carcinomatosis, postchemotherapy cases, chronic infections, infiltrative disorders of the marrow etc. The present study is a retrospective study of 3 years (Jan, 1999 to Dec.

Investigation of persistent hypochromic microcytosis unmasks hemoglobin Evanston [alpha 14 (A12) Try--> Arg] in a patient of cyclic thrombocytopenia preceding Takayasu's disease.

We report an unusual north Indian patient with Hemoglobin Evanston [alpha 14 (A12) Try --> Arg] who had acquired cyclic thrombocytopenia (10-1230 x 10(9)/l periodic oscillation of four week duration) which recovered without any specific therapy. She later developed Takayasu's disease and underwent three corrective stents. She is presently in clinical remission and is on regular follow up.

Hematological disorders in Down syndrome: ten-year experience at a Tertiary Care Centre in North India.

A total of 239 cases of Down syndrome (DS) were seen in the genetic clinic between 1992 and 2003, of which of 15 had hematological manifestations at presentation. These comprised 4 cases of transient myeloproliferative disorder (TMD), 3 cases of TMD/acute leukemia, 4 cases of acute leukemia (AL), 2 of dual deficiency anemia, and 1 case each of myelofibrosis and idiopathic thrombocytopenia. This study emphasizes the fact that an abnormal hemogram in a DS patient does not necessarily indicate AL/TMD, as a considerable number of the cases in this study had other hematological abnormalities.

Comparative study of myelodysplastic syndromes and normal bone marrow biopsies with conventional staining and immunocytochemistry.

Objective: To study the histomorphometric features of megakaryocytic elements in bone marrow trephine biopsies of various subtypes of myelodysplastic syndrome (MDS).

Study Design: Comparative image morphometry using hematoxylin-eosin-stained and CD 61-stained trephine biopsies was carried out on 40 cases of MDS and 10 normal subjects to analyze the megakaryocytes objectively. The various variables analyzed were number of megakaryocytes and micromegakaryocytes, area, perimeter and diameter of the megakaryocytic elements.

Establishment of prenatal diagnosis for beta-thalassaemia: a step towards its control in a developing country.

Beta-thalassaemia constitutes a major health burden on the limited health resources of India and prenatal diagnosis is seen as an important preventive measure to reduce the burden of the disease. Prenatal diagnosis has been offered to 99 women in 112 pregnancies by fetal DNA analysis, using a PCR-based Amplification Refractory Mutation System (ARMS) for the common and uncommon Indian mutations. Restriction fragment length polymorphism (RFLP) for the beta-globin gene was used when the mutation remained unidentified in one of the parents or to complement the ARMS result.

Nucleotide -88 (C-T) promoter mutation is a common beta-thalassemia mutation in the Jat Sikhs of Punjab, India.

A study of beta-gene mutations in Jat Sikhs, a subcaste of Punjabis, revealed a very high prevalence (46%: 41/88) of the mild beta++ promoter region mutation -88 (C-T). Sixteen individuals presenting in homozygous form were clinically mild. Un-transfused patients had characteristic hematological findings: high Hb F (38.