A case of disseminated subcutaneous phaeohyphomycosis caused by Exserohilum rostratum with CARD9 mutation

Phaeohypomycosis is a rare cutaneous and subcutaneous fungal infection caused by dematiaceous fungi. They have a widespread global distribution occasionally affecting humans. A 26-year-old woman presented with multiple skin lesions over her face and extremities for last 7 years, unresponsive to systemic amphotericin B and itraconazole. Further investigations revealed CARD9 mutation and phaeohyphomycosis caused by the pigmented fungus Exserohilum rosatratum. Lesions subsequently improved with oral flucytosine and itraconazole

Study of parents of β-thalassemia major children to determine cutoff values of hematological parameters for diagnosis of β-thalassemia trait and assessment of anemia in them.

Background: Because of the overlapping MCV, MCH and HbA 2 values in BTT and non-BTT subjects our laboratory determined own cutoffs. Aims: To establish cutoff values by investigating the parents of thalassemia major children and to assess the degree of anemia in BTT subjects. Materials and Methods: Study includes 179 parents of thalassemia major children (BTT cases) and 287 non-BTT controls. Samples were analyzed on an electronic hematology analyzer. The samples having MCV ≤ 76 fl and MCH ≤ 27 pg were quantified for HbA 2 by cellulose acetate electrophoresis and grey zone samples were confirmed on HPLC. Statistical Analysis Mean ± SD, sensitivity, specificity, PPV, NPV and accuracy were calculated. The histograms were plotted for MCV, MCH and HbA 2 . Results: Cases having MCV ≤ 76 fl and MCH ≤ 27 pg if considered as suspected cases of BTT then we could have missed five known BTT samples. Sensitivity increased to 100% in all three diagnostic parameters when the cutoff values were raised and specificity for MCV and MCH was decreased. But specificity was 100% with raised cutoff for HbA 2 . Hb and HCT mean values were significantly reduced in BTT cases compared to controls (P < 0.001). In 100% females and 84.9% males having BTT, mild to moderate anemia was observed. Conclusion: In our setup, the cutoff values are MCV (≤78.0 fl), MCH (≤28 pg) and HbA 2 (>3.8%) for BTT diagnosis and there is a mild to moderate anemia in BTT cases.

Hemoglobinopathies in South Gujarat population and incidence of anemia in them.

Objective: To Screen of South Gujarat population for determination of prevalence of different hemoglobinopathies particularly beta thalassemia trait (BTT) and sickle cell trait (SCT) and find out the incidence of anemia in them. Material and Methods: The present study screened 32,857 samples of students from different school and colleges in South Gujarat. Blood samples were initially tested for solubility test and complete hemogram on hematology analyzer. Samples having MCV (≤78), MCH (≤28) and/or positive solubility test were investigated for Hb electrophoresis on cellulose acetate membrane (pH 8.6). Hb A 2 level ≥3.5% was considered as diagnostic for BTT. High performance liquid chromatography on Biorad Hb variant system was done on samples having doubtful results. Result: Overall prevalence of BTT and SCT in South Gujarat was 4.4% and 1.3% respectively. Gamit, Vasava, Chaudhary, and Mahyavanshi castes had high prevalence of BTT (15.9%, 13.6%, 12.6%, and 6.9%) as well as SCT (22.2%, 15.2, 22.3, and 4.2%) respectively. Other communities like Lohana (10.8%), Sindhi (10.2%), Prajapati (6.3%), and Ghanchi (6.2%) also showed higher prevalence of BTT. Incidence of mild to moderate anemia was higher in BTT and SCT compared to non-BTT or non-SCT subjects. Conclusion : Study suggests that BTT is the most prevalent hemoglobinopathy in South Gujarat. β-thalassemia and Sickle cell anemia are highly prevalent in Mahyavanshi, Chaudhary, Gamit, Vasava and Rohit. Prajapati, Lohana, Leva Patel, and Ghanchi have β- thalassemia risk. SCT is more frequently detected in Dhodia Patel and Kukanas.

Prevalence and hematological profile of β-thalassemia and sickle cell anemia in four communities of Surat city.

Background: From the data of transfusion-dependent thalassemia major cases, the 4 communities (Muslim, Dhodia Patel, Kachhiya Patel, and Modh Bania) with high prevalence but not studied methodically were selected. Aim: The aim of this study is to find prevalence of β-thalassemia and sickle cell anemia in 4 selected communities and also to evaluate hematological profile in them. Materials and Methods: For screening of β-thalassemia trait (BTT) and sickle cell trait (SCT), all samples were tested for red cell indices, solubility, HbA 2 level and doubtful cases confirmed on HPLC. Statistical Analysis: Mean ± SD, χ2 and 't' tests were used to evaluate the significance. Results and Conclusion: Among 4 selected communities, the highest prevalence of BTT was observed in Modh Bania (6.2%) and Kachhiya Patel (6.05%) and that of SCT in Dhodia Patel (14.0%). Significantly higher prevalence of BTT was observed in Memon ( P < 0.0001) and of SCT in Khalifa 6.6% ( P < 0.0001) compared to other Muslim sub castes. Anemia was more prevalent in BTT compared to non-BTT and non-SCT subjects. 80% of Dhodia Patel non-BTT and non-SCT subjects showed microcytic red cell morphology. Their Mean ± SD Hb concentration was 12.1 ± 1.73, hence iron deficiency cannot be a sole reason. This community needs α-thalassemia and iron studies.