Infections in Hb SD Disease

Infections in Hb SD DiseaseCase ReportHBSD Disease, a compound heterozygote originator pre displaceation with strokeDr. Hasnain Afzal 1 Dr. Syed Farrukh Umair 2AbstractHaemo hematohiston SD S/D is a rare compound heterozygous hemoglobinopathy which presents as disgustful disease similar to homozygous reaping hook cell anemia(1). The patient federal agency being reported is a 8 yr old girl, Kiran who is a resident of Larkana, presented with complains of fever and headache for 15 days which progressed to generalized sparkling water clonic seizures and acute loss of reason while being do by in Larkana. After the electric shaver was stabilized, a thorough history, physical tryout was through initial science lab tests, lumbar puncture, and MRI were performed. Treatment was started on the lines of acute meningoencephalitis on clinical suspicion. On peripheral inception film, sickle shaped cells, take cells, poikilocytosis, anisocytosis were noted and Hb Electrophoresis was se nt which showed compound heterozygous state for Hb S/ Hb D. The lumbar puncture was negative for CSF infection and an transposition diagnosis was sought excogitationThe adult haemoglobin HbA molecule consists of two chains coded by 4 genes on chromosome 16 and two of import chains coded by 2 genes in the gene cluster on chromosome 11(2). reaping hook Hemoglobulin Hb S is a beta chain mental strain which arrives when valine is substituted for glutamic acerb on the coat of the Hb S molecule in the sixth codon of the beta globin chain whereas the most common subtype of HbD i.e HbD Punjab alike known as Haemoglobulin D Los Angeles (after the city where it was first discovered) is also a beta chain variant caused by a glutamic acid to glutamine substitution at codon 121 of the beta globin gene. HbS is associated with a number of compound heterozygous syndromes with other mutant beta globin which include Hemoglobin SC disease, Sickle beta+thalassemia, Sickle beta0thalassemia, S ickle alpha thalassemia, Sickle hereditary persistence of HbF (sickle HPFH), Other little common sickle cell syndrome variants (eg, delta beta0thalassemia, Hb Lepore, HbD, HbO Arab, HbE). HbSD presents as mild to conquer hemolytic anemia unlike HbD homogyzous and simple hetrozygotes which are usually asymptomatic.(3) interchangeA study do on abnormal hemoglobin variants among the major ethnic groups of Karachi in 2002 showed that 60% had iron-deficiency anemia and 40% had hemolytic anemia, of which 20.6 % was collect to thalassemia major, 13% thalassemia trait, 5.1% sickle cell disease, 0.76% hemoglobin D Punjab (HbD Punjab), 0.32% hemoglobin C (HbC), and 0.22% hereditary persistence of fetal hemoglobin (HPFH) (4).Hb S is the most common Hb variant, its clinical outcome is severe in homozygous or when associated with other hemoglobinopathies, such as beta-thalassemia, Hb C or Hb D. (5). A number of studies have been done on Hb S and Hb C besides Hb D is still poorly studied es pecially in Pakistan. Hemoglobin D has several varients such as HbD Punjab (Los Angeles), Hb D Iran, Hb D Ibadan and Hb D Bushman but the most common variant is HbD-Los Angeles (also called HbD-Punjab). spunky performance liquid chromatography (HPLC) can be used to separate hemoglobin polypeptide chains in the laboratory. High performance liquid chromatography (HPLC) employs ion exchange order to identify and exchange various fractions of Hb.Hb D can be also distinguished from Hb S by acid electrophoresis or isoelectric focusing (IEF) (separation according to isoelectric points). On alkali electrophoresis (cellulose acetate) Hb D Punjab migrates slower than Hb A which is similar to HbS but its migration under acid electrophoresis (agarose gel) is similar to Hb A (6) In HbSD disease, HbD does not control part in the sickling process, as patients homozygous for HbD do not sickle but mild hemolytic anemia, mild to moderate splenomegaly may occur (7,8). Studies has indicated that alt hough HbD itself does not polymerize, it increases the hydrophobic interaction between Hb S molecules and facilitates the polymerisation of HbS thus enhancing the severity of the disease. (9) HbD heterozygotes with normal HbA have no clinical or hematologic alterations. (6) Table 1.1 Hb Electrophoresis Test Done on high performance liquid chromatography (HPLC)HaemoglobinTest Percentage modal(prenominal) PercentageHaemoglobin A20.7%(98-100)Haemoglobin A22.6%(1.5-3.5)Haemoglobin F13%(1-2) Haemoglobin D37.9%(0.0-0.0)Haemoglobin S25.8%(0.0-0.0)Interpretation A+F+D+S+A2Case Report8 yr old, 16 kg, Kiran resident of Larkana district, presented to us on 7th April, 2015 with acute loss of consciousness and recurrent episodes of seizures for 3 days. longanimouss father reported that she was in a usual state of health 15 days support when she developed high grade intermittent fever and constant severe headache associated nausea, vomiting and neck stiffness. She was taken to a primary look at infirmary in Larkana and treated on the lines of viral/bacterial meningoencephalitis. During her hospital stay in Larkana she developed recurrent episodes of generalized tonic clonic seizures which were controlled by multiple anticonvulsant drug agents. First Lumbar pucture was done on 31ST March, 2015 and CSF DR showed 21mg/dl Protein, 68 mg/dl Glucose, CSF TLC 17 and 2-3 RBC/HPF. CT was done on 31st March, 2015 showed generalized mindset edema. Upon arrival in intensive care unit Patel Hospital the patient was in a comatose condition with GCS 5/10, bilateral upgoing planters and flexor response to pain(decorticate) enduring was febrile 103F, other vitals were BP 130/90, Pulse 100, RR 28. After the child was stabilized, a thorough history, physical examination was done initial laboratory tests, lumbar puncture, and MRI were performed. CBC showed normocytic anemia and peripheral film showed target cells, sickle cells, anisocystosis, poikilocytosis, polychromasia diamorphic p icture. Hb Electrophoresis was sent on hematologist advice. patient was started on mannitol to decrease intracranial pressure and multiple antiepileptic agents for seizure prevention. ATT, bacterial and viral meningitis cover was given and CSF DR was sent on 9th April, 2015 which showed 27 mg/dl Protein, 71 mg/dl Glucose, Chloride 123 mg/dl, TLC 04 and 17 RBC/HPF. CSF fluid gram stain, culture were ab initio negative. AFB Culture report to follow in 6 weeks. MRI done on 8th April, 2015 showed widespread abnormal signal intensity land involving bilateral frontal and parietal lobes. Few focal hyperintense signals were identified on bilateral occipital region which may represent areas of ischemic infarction. An alternate diagnosis such as cerebral ischemia due to shrimpy infarcts/ vasculitis involving bilateral frontal and parietal lobes was sought secondary to Hb SD disease. Patient had significant improvement in GCS 10/15 with spontaneous meat opening, withdrawal on pain and few incomprehensible sounds and was shifted out of the ICU due to financial constraints.Graph 1.1 High Performance Liquid Chromatography end pointThe case demonstrates increase susceptibility to infections in Hb SD disease. Studies are rarely on Hb D in Pakistan. Genetic counceling is of pivotal role in hereditary hemoglobinopathies and hospitals should consider it as an important management schema and employ in hospital genetic counceling facilities. Hydroxyurea used to increase Hb F levels in Homozygous Sickle Cell Disease Hb SS disease has shown efficacy by reducing the complications, frequency of transfusions and hospitalization but its role in Hb SD Punjab is not well established. A juvenile study in India showed reduction in incidence of vaso-occlution and frequency line of credit transfusions in Hb SD Punjab disease which is encouraging and more studies should be done on the management of Hb SC compound heterozygous disease. (10)ReferencesRahimah A, Syahira Lazira O, Siti Hi da HM, Faidatul Syazlin AH, Nur Aisyah A, Nik Hafidzah NM, Zubaidah Z. Haemoglobin sickle d punjab a case report. Med J Malaysia. 2014 Feb69(1)42-3.Birol G, Abdullah C, Cagatay U4, Sule MY, Ferda TT, Sevcan TB. -Globin chain abnormalities with coexistent -thalassemia mutations. Arch Med Sci 2012 8, 4 644-649.El-Kalla S, Mathews A R. HbD Punjab in the United Arab Emirates. Hemoglobin 199721369-75.Ghani R,Manji MA,Ahmed N. Hemoglobinopathies among five major ethnic groups in Karachi, Pakistan. Southeast Asian J Trop Med Public Health.2002 Dec33(4)855-61.Thom CS, Dickson CF, Gell DA, Weiss MJ. Hemoglobin variants biochemical properties and clinical correlates. 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