Philadelphia Chromosome Positive Chronic Myelogenous Leukemia In Childhood: A Rare Case Report

CML is a clonal hematopoietic stem cell disorder. As per WHO classification, CML is included in Myeloproliferative disorder. Adult type - CML is rare in childhood constituting about 3% of childhood leukaemia. We have reported such a case in a 7yr old male child. Peripheral blood smear and bone marrow revealed features of chronic myeloproliferative disorder and cytogenetic analysis has proved Ph chromosome positivity. We report one such case of Philadelphia positive CML in a 7 year old male patient with chief complaints of fever on & off since 4-5 months and sense of abdominal fullness since 1 month, on examination pallor was found with mild hepatomegaly and moderate splenomegaly. The clinical differential diagnosis was malaria, storage disorder or tropical splenomegaly. Though biological behaviour and prognosis are identical to that of adult type, we are reporting this case because of its extremely uncommon incidence.

Analysis of hemoglobin electrophoresis results and physicians investigative practices in Saudi Arabia.

BACKGROUND AND OBJECTIVES: Riyadh and central province falls in a moderate prevalent zone of hemoglobinopathies in Saudi Arabia. However, it has been observed that the physicians working in Saudi Arabia invariably advise all cases of anemia for hemoglobin electrophoresis (HE). The present work was carried out to study the yield of the HE in Riyadh and the investigative practices of the physicians advising HE. SETTINGS AND DESIGN: The study was carried out in the hospitals of King Saud University from 2009 to 2011 in order to assess the yield of HE in referred cases of clinical anemia. MATERIALS AND METHODS: A total of 1073 cases divided in two groups of males and females had undergone complete blood count and red blood cell morphology. Cellulose acetate HE was performed and all the positive results were reconfirmed on the high performance liquid chromatography (HPLC). The results were analyzed for the type of hemoglobinopathies. For statistical analysis Statistical Package for Social Sciences 15 version (SPSS Inc., Chicago, IL, USA) was used. RESULTS: A total of 405 males and 668 females blood samples were included in the present study. 116 (28.5%) males and 167 (25%) females showed an abnormal pattern on HE. The incidence of beta thalassemia trait was higher in females while sickle cell trait was predominantly seen in males. Red cell indices were reduced considerably in thalassemias, but were unaffected in sickle cell disorders, except those which had concurrent alpha trait. The total yield of HE was 26.6% which was much less than expected. CONCLUSION: The physicians are advised to rule out iron deficiency and other common causes of anemia before investigating the cases for hemoglobinopathies, which employs time consuming and expensive tests of HE and HPLC.

A comparative study of hematological parameters of α and β thalassemias in a high prevalence zone: Saudi Arabia.

BACKGROUND AND AIMS: Saudi Arabia falls in the high prevalent zone of αα and β thalassemias. Early screening for the type of thalassemia is essential for further investigations and management. The study was carried out to differentiate the type of thalassemia based on red cell indices and other hematological parameters. MATERIALS AND METHODS: The study was carried out on 991 clinically suspected cases of thalassemias in Riyadh, Saudi Arabia. The hematological parameters were studied on Coulter STKS. Cellulose acetate hemoglobin electrophoresis and high-performance liquid chromatography (HPLC) were performed on all the blood samples. Gene deletion studies were carried out by restriction fragment length polymorphism (RFLP) technique using the restriction endonucleases Bam HI. STATISTICAL ANALYSIS: Statistical analysis was performed on SPSS 11.5 version. RESULTS: The hemoglobin electrophoresis and gene studies revealed that there were 406 (40.96%) and 59 (5.95 %) cases of β thalassemia trait and β thalassemia major respectively including adults and children. 426 cases of various deletion forms of α thalassemias were seen. Microcytosis was a common feature in β thalassemias trait and (-α/-α) and (--/αα) types of α thalassemias. MCH was a more significant distinguishing feature among thalassemias. β thalassemia major and α thalassemia (-α/αα) had almost normal hematological parameters. CONCLUSION: MCV and RBC counts are not statistically significant features for discriminating between α and β thalassemias. There is need for development of a discrimination index to differentiate between α and β thalassemias traits on the lines of discriminatory Indices available for distinguishing β thalassemias trait from iron deficiency anemia.

Role of FNAC and antithyroid antibodies in the diagnosis of thyroid disorders.

Multiple parameters are needed to diagnose thyroid disorders. 100 cases of thyroid swellings were studied by clinical assessment, hormonal assay, fine needle aspiration cytology (FNAC), antithyroglobulin (Tg) and antimicrosomal (Tm) antibodies and histopathology. The cases were divided into four groups. Cases of thyroiditis on FNAC showed predominance of lymphocytes (76%), hurthle cells (77%), epithelioid cells and giant cells (31%) and high titres of Tg (66%) and Tm (92%). Non toxic goitre was characterized by colloid and foam cells (100%) and low positivity for Tg and Tm (25%). Toxic goitre showed colloid (30%). Hurthle cells, anisonucleosis of acinar cells (38%), fire flare (62%) and high positivity for Tg and Tm (73%). Neoplasia was diagnosed mainly by cell morphology on FNAC and a low positivity for Tg and Tm (30%). FNAC in correlation with thyroid antibodies is useful in diagnosing autoimmune thyroiditis, goitre, Grave's disease and malignancy of thyroid. Antibodies have a specific role in the diagnosis of early stage of thyroiditis.