scholarly journals A hospital based study of Hereditary Hemolytic Anaemias in Davanagere district of Karnataka, India

1970 ◽  
Vol 9 (3) ◽  
pp. 154-160
Author(s):  
BP Preethi ◽  
K Monika ◽  
DS Maitreyee ◽  
K Rashmi
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Age Of Onset ◽  
Medical Science ◽  
Failure To Thrive ◽  
Peripheral Blood Smear ◽  
Thalassemia Major ◽  
Mortality And Morbidity ◽  
Clinical Presentations ◽  
Enzyme Defects

Background: Hereditary hemolytic anaemias constitute important cause of mortality and morbidity in developing countries next only to infection and malnutrition.These group of anaemias have various clinical presentations starting from their age of onset of symptoms, failure to thrive, anaemia, prostration, jaundice, splenomegaly, cholelithiasis, cardiomegaly, congestive cardiac failure, severe life threatening infections and chronic disabilities leading to distress in the families. Methodology: An analysis of 40 cases of hereditary hemolytic anaemia in the age group of 2 months to 12 years was done in the present study. On the basis of clinical presentations, physical findings, routine hematological investigations and hemoglobin electrophoresis pattern in hemoglobin defects were carried out to identify the type of hemolytic anaemias. Results: This clinocohematological study of hereditary hemolytic anaemia showed membrane defects- Hereditary spherocytosis in 4 cases (10%). The remaining 36 cases were having diseases affecting hemoglobin molecule which included Sickle cell anaemia-5 cases (12.5%), Sickle cell trait- 1 case (2.5%), Sickle cell/β thalassemia-1 case (2.5%), β thalassemia major- 23 cases (57.5%) and β thalassemia trait 6 cases(15%). Hereditary hemolytic anaemia with enzyme defects were not observed in this study. Majority of these cases presented with progressive pallor and hepatosplenomegaly. Peripheral blood smear examination showed microcytic hypochromic anaemia (87.5%) in majority of the cases. All cases were associated with reticulocytosis. Hemoglobin electrophoresis confirmed the diagnosis. Conclusion: Inspite of advanced diagnostic inestigations, the basic hematological investigation remains first panel or step towards the approach to diagnose hereditary hemolytic anaemia and hemoglobin electrophoresis will help in confirming the diagnosis. Keywords: hereditary hemolytic anaemia; clinoco-hematological study; hemoglobin electrophoresis DOI: 10.3329/bjms.v9i3.6471Bangladesh Journal of Medical Science Vol.09 No.3 July 2010, pp.154-160

scholarly journals ECAST Syndrome (Exercise Collapse Associated with Sickle Cell Trait): First Knock of Sickle Cell in a Young Bodybuilder

2021 ◽  
pp. 74-78
Author(s):  
Janhavi Mahajan ◽  
Dhruv Talwar ◽  
Sunil Kumar ◽  
Sourya Acharya ◽  
Yogesh Kakde
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Vigorous Physical Activity ◽  
Stable Condition ◽  
Young Male ◽  
Exercise Session ◽  
Vigorous Exercise ◽  
Mortality And Morbidity ◽  
Excessive Heat ◽  
History Of

ECAST Or exercise collapse associated with sickle cell trait is a rare phenomenon associated with sickle cell trait and is an important presentation of sickle cell disease in sports medicine. Collapse is seen following vigorous physical activity, which is due to excessive heat, dehydration and other factors associated with physical exercise. This rare syndrome is often missed by the treating physicians as a result of a lack of knowledge about this rare entity leading to massive underreporting. It is important to identify ECAST as a cause of the collapse in young athletes to prevent mortality and morbidity and in order to provide prompt treatment. We report a case of a 25- year-old young male who was a bodybuilder and reported to the gym after a one-year-long break due to lockdown restrictions of COVID19. After a vigorous exercise session, he collapsed in the gym and was brought to the emergency department. After proper history taking and examination, he was suspected to be a case of ECAST due to a history of a similar episode three years back which was treated as a case of exertional syncope with intravenous fluid therapy and a family history of Sickle cell trait with his mother and father both having sickle cell AS Pattern. Ultimately our patient turned out to be a case of Sickle Cell Trait with evidence of AS pattern on Hb electrophoresis and a small-sized spleen visualized on CT Scan of the abdomen. The patient was managed successfully with intravenous fluids and blood transfusion and was discharged in a stable condition. He was counseled about moderating his exercise and is doing well on follow-up.

scholarly journals Childhood pneumococcal meningitis: may it begin with diarrhea and proceed with cerebral infarct?

1970 ◽  
Vol 10 (1) ◽  
pp. 52-56
Author(s):  
AE Yilmaz ◽  
F Çatal ◽  
T Ta? ◽  
M Bilici ◽  
E Örün ◽  
...  
Keyword(s):  
Pneumococcal Meningitis ◽  
Medical Science ◽  
Cerebral Infarct ◽  
Neurologic Complications ◽  
Baby Girl ◽  
Meningeal Irritation ◽  
Mortality And Morbidity ◽  
Clinical Presentations ◽  
Microscopic Evaluation ◽  
The Central Nervous System

Pneumococcal meningitis does continue to be an important cause of mortality and morbidity in childhood despite widespread vaccination. It develops thorough invasion of the meninges by the agent via bloodstream. It may manifest typical signs of meningeal irritation and even the symptoms not belonging to the central nervous system, such as diarrhea. The diagnosis is made by microscopic evaluation and culture of cerebrospinal fluid (CSF) obtained by lumbar puncture. Despite the treatment, the risk of occurrence of cerebral and neurologic complications is high. A two-month old baby girl was presented to our outpatients' clinic because of fever and diarrhea; she was diagnosed with pneumococcal meningitis and developed cerebral infarct during surveillance. The reason why we presented this patient is to highlight that meningitis due to pneumococ, one of the most common causing agents in childhood meningitis, may have clinical presentations other than expected. Key words: Pneumococcal meningitis; cerebral infarct; infant.  DOI: 10.3329/bjms.v10i1.7320 Bangladesh Journal of Medical Science Vol.10 No.1 Jan 2010 pp.52-56

scholarly journals Undiagnosed Hemoglobinopathies: A potential threat to the premarital screening program

2019 ◽  
Vol 35 (6) ◽  
Author(s):  
Hassan Abdu Hamali ◽  
Muhammad Saboor
Keyword(s):  
Sickle Cell ◽  
Complete Blood Count ◽  
Sickle Cell Trait ◽  
Screening Program ◽  
Thalassemia Major ◽  
Research Centre ◽  
Potential Threat ◽  
Hemoglobin E ◽  
Iron Deficient ◽  
Premarital Screening

Objectives: To evaluate the prevalence of undiagnosed hemoglobinopathies among individuals visiting the premarital screening Centre. Methods: This study was conducted at Premarital Screening Centre, King Fahad Central Hospital and Research Centre, Jazan, between January 2018 and October 2018. A total of 3,970 (male n =1,859 and female n = 2,111) individuals were included in the study. Data of complete blood count, hemoglobin electrophoresis and sickling tests of all individuals recruited in the study were obtained and statistically analyzed. Results: One thousand three hundred and twelve individuals had abnormal complete blood counts or hemoglobin electrophoresis results, that include sickle cell trait (13.5%), sickle cell disease (0.7%), β thalassemia with sickle cell trait (2.46%), β thalassemia trait (1.51%), β thalassemia major (0.075%), suspected α thalassemia or other hemoglobinopathies (4.43%), hemoglobin H (0.3%), hemoglobin E (0.075%), undiagnosed cases (0.91%) and iron deficient (7.23%). Conclusion: A high percentage of individuals are suspected for α thalassemia or other hemoglobinopathies that needs to be diagnosed. Further investigations shall be included in the premarital screening program to diagnose these inconclusive cases. Coexistence iron deficiency with thalassemia shall also be ruled out during premarital screening program. doi: https://doi.org/10.12669/pjms.35.6.976 How to cite this:Hamali HA, Saboor M. Undiagnosed Hemoglobinopathies: A potential threat to the premarital screening program. Pak J Med Sci. 2019;35(6):1611-1615.  doi: https://doi.org/10.12669/pjms.35.6.976 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

scholarly journals The Peripheral Blood Smear in Patients With Sickle Cell Trait: A Morphologic Observation

2000 ◽  
Vol 31 (8) ◽  
pp. 445-447 ◽  
Author(s):  
Christopher I. Wilson ◽  
Paulette L. Hopkins ◽  
Beria Cabello-Inchausti ◽  
Steven J. Melnick ◽  
Morton J. Robinson
Keyword(s):  
Sickle Cell ◽  
Peripheral Blood ◽  
Blood Smear ◽  
Sickle Cell Trait ◽  
Peripheral Blood Smear

scholarly journals Spectrum of types of thalassemias and hemoglobinopathies: study in a tertiary level children hospital in Bangladesh

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Waqar A. Khan ◽  
Bilquis Banu ◽  
Salma Sadiya ◽  
Golam Sarwardi
Keyword(s):  
Sickle Cell ◽  
High Performance ◽  
Sickle Cell Trait ◽  
Fetal Hemoglobin ◽  
Thalassemia Major ◽  
Hb E ◽  
Short Program ◽  
Abnormal Hemoglobin ◽  
Hereditary Persistence ◽  
The Common

Thalassemias and hemoglobinopathies are the most common hemolytic congenital disorders in Bangladesh as in many parts of the world. This study was done to find the common types of thalassemias and abnormal hemoglobin variants seen in Bangladeshi populations. A total of 4813 samples were analyzed for hemoglobin disorders out of which 2308 (49.95%) showed abnormalities. The samples were analyzed by Bio Rad D 10 Analyzer in 3914 (81.32%) cases, BIORAD VARIANTβ thalassemia short program using the principle of high performance liquid chromatography in 474 (9.85%) cases and by CAPILLARYS 2 FLEX PIERCING utilizing capillary electrophoresis in 425 (8.83%) cases. The samples were analyzed in the Department of Biochemistry and Molecular Biology of Dhaka Shishu (Children) Hospital, Dhaka, Bangladesh. The common hemoglobin disorders seen were β trait 863 (17.94%), Hb E trait 601 (12.50%), Hb E β thalassemia 524 (10.87%), β thalassemia major 192(4.00 %), Hb E disease 99 (2.05%). Other Hb abnormalities detected were Hb D trait 17 (0.35%), Sickle cell trait 4 (0.08%), hereditary persistence of fetal hemoglobin (HPFH) 2 (0.04%), and Hb Lepore, δ β thalassemia, sickle cell β thalassemia, Sickle cell disease, compound heterozygote for HbE+D and Hb Q band one case each (0.02%). 与世界许多地方一样，地中海和血红蛋白病是孟加拉国最常见的溶血性先天性疾病。本研究的目的是找到孟加拉国人群的常见地中海贫血类型和异常血红蛋白变体。总共对4813例样本进行了血红蛋白疾病分析，其中2308例（49.95%）显示异常。3914例（81.32%）样本使用Bio Rad D 10分析仪分析，由BIORAD VARIANTβ地中海贫血症短期计划使用高效液相色谱法分析了474例（9.85%），由CAPILLARYS 2 FLEX PIERCING使用毛细管电泳分析了425例（8.83%）。样本在孟加拉达卡的达卡生化与分子生物学教研室进行分析。观察到的常见血红蛋白疾病是863例（17.94%）β特征、601例（12.50%）Hb E特征、524例（10.87%）Hb E β地中海贫血、192例（4.00 %）β重型地中海贫血、99例（2.05%）Hb E疾病。检测到的其他Hb异常为17例（0.35%）Hb D特征、4例（0.08%）镰状细胞性状、2例（0.04%）遗传性持续性胎儿血红蛋白综合征（HPFH）以及Hb Lepore δ β地中海贫血、镰状细胞β地中海贫血、镰状细胞病、HbE+D和Hb Q带的复合杂合体各一例（0.02%）。

Malaria and the Sickle Cell Trait: Conferring Selective Protective Advantage to Malaria

2019 ◽  
Author(s):  
Obeagu Emmanuel Ifeanyi
Keyword(s):  
Developing Countries ◽  
Pregnant Women ◽  
Sickle Cell ◽  
High Mortality ◽  
Sickle Cell Trait ◽  
Mortality And Morbidity ◽  
Endemic Disease ◽  
The World ◽  
Endemic Areas

Malaria is an endemic disease in the developing countries like Nigeria with high mortality and morbidity rates especially in children and pregnant women who are immune competent. A lot of measures have been taken to control malaria in this part of the world but is still major problem confronting person in the malaria endemic areas. Sickle cell trait has been shown to confer selective protective advantage to malaria on the persons possessing the hemoglobin genotype. This paper discussed the selective protective advantage of sickle cell trait to malaria.

scholarly journals Mean Corpuscular Volume (MCV) and Mean Corpuscular Hemoglobin (MCH) Determinations in Newborns with Beta Thalassemia

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 4904-4904
Author(s):  
Kaitlin Bierman ◽  
Harold M. Maurer ◽  
James Harper
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Mean Corpuscular Hemoglobin ◽  
Corpuscular Hemoglobin ◽  
Newborn Period ◽  
Alpha Thalassemia ◽  
Thalassemia Minor ◽  
Thalassemia Trait

Abstract Newborns with alpha thalassemia trait have microcytic red blood cells (RBCs) used as a diagnostic screening tool at birth. Infants with beta thalassemia present with microcytosis sometime during the first year of life; however, whether microcytosis is present in newborns is unknown. In this study, we determined the MCV and MCH values in newborn infants, who have beta0 thalassemia major, intermedia, and minor by performing a retrospective study, with IRB approval. 189 eligible patients seen by the hematology/oncology group of 10 physicians at Children's Hospital Medical Center (CHMC) and UNMC were reviewed. Patients were identified by International Classification Codes-10 (56.1, 56.3, 57.3, 57.4). Of the 189 eligible patients with beta thalassemia major, intermedia, minor, and sickle cell trait (used as controls), there were 28 evaluable and 161 non-evaluable patients. The non-evaluable patients had either the wrong diagnosis (coexisting alpha thalassemia trait) (68) or no laboratory data within the newborn period or up to 6 months of age (93). A second control group used were normal complete blood count (CBC) values by age from the Pathology Laboratory at CHMC. Of the 28 evaluable infants, 5 had beta0 thalassemia major, 2 had sickle-beta+ thalassemia (regarded as intermedia for this study), 7 had beta thalassemia minor, and 14 had sickle cell trait. The diagnosis in each of the 28 infants was confirmed by newborn screening for a hemoglobinopathy and hemoglobin electrophoresis sometime after birth. The MCV, MCH, mean corpuscular hemoglobin concentration (MCHC), hemoglobin (hgb), hematocrit (hct), and red blood cell count (RBC) were taken on evaluable patients within the newborn period through 6 months of age and de-identified using the Safe Harbor Method. MCV and MCH were found to be reduced in newborns with beta0 thalassemia and sickle-beta+ thalassemia. However, infants with beta thalassemia minor had normal MCV and MCH values. The MCHC, RBC, hgb, and hct were comparable to controls and within normal limits. By 3-4 months of age, in the infants with beta thalassemia major or intermedia, the MCV and MCH fell to clinically characteristic levels when compared to controls, and plateaued through 6 months of age. MCV and MCH values for infants with beta thalassemia minor, 0-6 months of age, were incomplete to be able to draw a similar conclusion. The proposed mechanism for microcytosis in major and intermedia is an imbalance between alpha and beta globin chain synthesis, which is not apparent in newborns with minor. In conclusion, the MCV and MCH can be used to screen for beta0 thalassemia major and intermedia in newborns. Although the data are discriminating despite the small numbers, a prospective study should confirm these findings. Figure. Figure. Disclosures No relevant conflicts of interest to declare.

Multiple Enlarging Masses and Failure to Thrive in Infant With Sickle Cell Trait

2020 ◽  
pp. 000992282097220
Author(s):  
Austin J. Jabbour ◽  
Rajasekharan Warrier ◽  
Paige Kretschmar
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Failure To Thrive
Sign in / Sign up

Export Citation Format

Share Document