No abstract

E b thalassemia is a pathological double heterozygous state in which a patient inherits thalassemia gene from one parent and the hemoglobin E gene from the other parent. Clinical severity of Hemoglobin E-b thalassemia is variable, ranging from mild to severe, simulating homozygous b thalassemia [1]. Inspite of its occasional resemblance with thalassemia major, thromboembolic manifestations have been rarely reported in this disease [2]. Priapism represents a rare variety of thromboembolic manifestation, which has been reported in other hemoglobinopathies such as in sickle cell disease and thalassemia intermedia [3][4][5]. It has not been reported in literature of hemoglobin E-b thalassemia to the best of our knowledge. It was unavailability of such information, which prompted us to submit the present communication.A 32-year male patient presented to surgery emergency department at 5 A.M. in the early morning, with severe priapism of 4 hr duration. Physical examination revealed mild icterus, mild pallor, and hepatomegaly. He had suffered 20-25 self remitting similar episodes in last 1 month. These episodes were unrelated to intercourse, any drug intake, trauma, or any obvious precipitating factors. There was no family history suggestive of any thalassemic features. He had undergone splenectomy 8 years ago in the course of management for diagnosed hypersplenism.His hemoglobin concentration was 10.6 gm/dl with normal total leucocyte and platelet counts. His bleeding and clotting times were within normal limits (2.4 min and 3.7 min, respectively). He had unconjugated hyperbilirubinemia with total bilirubin-3.9 mg/dl and direct bilirubin -0.7 mg/dl. Ultrasound of the abdomen revealed multiple stones in the gall bladder. High performance liquid chromatography (HPLC) showed hemoglobin (E þ A2)-46.2%, Hemoglobin F-42.2%, Hemoglobin A-6.7%, Hemoglobin S-0%, Hemoglobin D-0%, Hemoglobin C-0%, and an unknown unidentified peak-4.7% (a scanned copy of the report of the HPLC Study is being presented with the manuscript). Before performing above mentioned investigation, it was confirmed that the patient did not have any recent history of blood transfusion. Peripheral blood smear showed microcytic hypochromic anemia, with moderate degree of anisopoikilocytosis and lots of fragmented RBC.Normoblast was 50% of total nucleated cells. Sickling test was done twice and results were found to be negative both the times. Molecular exploration of genetic constitution using mutation analysis showed compound heterogygous for IVS1-5[G-C]/b E mutation (a scanned copy of mutation analysis report is being presented with the manuscript).Within an hour of presentation, puncture of corpus cavernosa was done, which led to spontaneous drainage of 50 ml of dark blood with simultaneous detumescence of penis. Ultrasonography done after 1 week of the intervention revealed normal echo pattern of both corpus cavernosa without any signs of fibrosis. Priapism although a rare entity, represents a surgical emergency and needs immediate attention [6]. It is an ...

Piloleiomyoma is an uncommon benign smooth muscle neoplasm arising from arrector pili muscle. It is clinically defined by the presence of solitary or multiple reddish brown, dome-shaped, smooth papules or nodules, ranging in size from a few millimeters to a centimeter. The patients are otherwise healthy; but mental retardation developing in some patients with multiple Piloleiomyomas has been emerging as an intriguing matter for analysis by the scientists. In this case report, a mentally retarded patient with Piloleiomyoma is described, who, besides the characteristic smooth and dome-shaped lesions on the anterolateral aspect of the dorsum of the right foot, had developed crusting on one of the largest lesions. The histopathological features were consistent with Piloleiomyoma. The occurrence of Piloleiomyoma in a mentally retarded child and its unusual crusted nature has been rarely reported. The association between Piloleiomyoma and mental retardation is further stressed in this case report.