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HAEMOGLOBINOPATHY CASES on HPLC Dr. Archana Vazifdar Head Pathologist Hindlabs, HLL Lifecare Ltd.
HPLC Automated system precalibrated column and gradient Direction of flow Detector
Hemoglobin is eluted in a stepped manner by Buffers of Increasing Ionic strength
CHROMATOGRAMSOutputTime Peak RT RT (min) Area Total Area Count: 1-3 million HbF: 1-2%RT: HbA2: % (2-3.6%)RT:
P2- Glycemic status, upto 6% acceptable P3- 6% acceptable, 6-15% deterioration 15-25% HbJ
8 mnth/M, pallor, failure to thrive
Homozygous beta thalassemia
Heterozygous Beta thalassemia Mother of 8 mnth old child
HbA2- Normal RBC indices- Normal – Silent β thalassaemia RBC indices s/o thal – Co existing IDA – Co inheritance of α thalassaemia – δβ thalassaemia HbA2 LOW in α thalassaemia
HbA2% HbF% ≤ 2 Hb N MCV N Symptoms - FINAL NORMAL 4-10≤ 2/ mBorderline Asymptoma tic β THAL TRAIT NN Asymptoma tic Hb LEPORE TRAIT 25-35≤ 1NN Asymptoma tic HbE TRAIT 40-48≤ 2NN Asymptoma tic HbD IRAN Heterozygo us 50-60≥ 10Severe HbE/Hbβ double heterozygou s ≥ mAsymptoma tic HbE homozygou s
Hb Lepore Trait
Heterozygous E thalassemia
All criteria fit provided there is NO history of recent blood transfusion ALWAYS CORRELATE with clinical history with CBC & peripheral blood picture Degenerated sample
Hb 7 MCV 84 MCH 28 MCHC 32.4 RDW 20.2 Case 1: 2 yr/M, anemia, hepatosplenomegaly
Elevated HbF: HPFH (HbF 5-30%, CBC N, asymp) Heterozygous δβ thal (HbF 3-20%, asymp) Homozygous beta thal Pregnancy
Recently transfused c/o homozygous beta thalassemia
Case 2: 28/F, Severe anemia
Borderline HbA2 levels: Silent carrier of thalassemia β thal with superadded IDA Macrocytosis αβ thalassemia
Borderline elevated HbA2 due to macrocytosis
P3: 6% acceptable, 6-12% deterioration 15-25% HbJ
Hb: 6.5 MCV: 63 MCH: 23 MCHC: 26 RDW: 19.6
Double heterozygous for HbE and β thalassaemia
Tests may not be accurate if… Patient had a blood transfusion within the past four months. Patient has polycythemia (increased red blood cell production) or underlying anemia If the patient is on certain medications Aged/ degenerated sample
1 Approach to Anemia in Children Dr.Hekmati Moghaddam.
MLAB 1415: Hematology Keri Brophy-Martinez Chapter 11: Thalassemia Part Two.
MLAB 1415: Hematology Keri Brophy-Martinez Chapter 11: Thalassemia 1.
Red Cell Indices Nada Mohamed Ahmed, MD, MT (ASCP)i.
Extreme RDW Differential. RDW in a Nutshell RDW = StD / MCV x 100% Any increase in the range of blood cell width increases RDW. But keep in mind there.
Data from Dubai Thalassemia Centre. Chromosome 11 -globin gene Chromosome 16 -globin gene.
MLAB 1415: Hematology Keri Brophy-Martinez Thalassemia: Part One 1.
1 Chapter 12 Thalassemia Study Questions 2. Homework Assignment 3. Exam for Unit I.
Points to be discussed: Definitions Patho-physiology Signs & Symptoms Diagnosis Options of management. Complications Preventive measures.
1 History 2: 70 year old female. Symptoms of dyspnea on exertion, easy fatigability, and lassitude for past 2 to 3 months. Denied hemoptysis, GI, or vaginal.
globin synthesis A group of inherited disorders characterized by structural variations of the Hb molecule. They are Disorders of globin synthesis rather.
Anemias Professor Nasir Allawi Thalassemias. Definition of Thalassemia A group of inherited disorders of Hemoglobin synthesis, characterized by reduced.
Practical Physiology 5 th Lab. Packed Cells Volume (PCV)
Jshmay09 Laboratory Perspective of screening Joan Henthorn Central Middlesex Hospital London UK July 2009.
تشخيص سندرمهاي تالاسمي و الكتروفورزيس تعريف سندرم هاي تالاسمي ژنوتيپ انواع تالاسمي : ژن α – كروموزوم 16 ژن β – كروموزوم 11 γ δ.
Lab investigations of different types of Anemias: 1.A complete blood count, CBC RBC count Hematocrit (Hct) or packed cell volume Hemoglobin determination.
رفع نسبة الوقاية من الإصابة بالتلاسيميا في سورية باتخاذ القرارات المبنية على الدليل لتغيير نمط الحياة إعداد : د. شذى العجي الخطة الإستراتيجية الصحية لمرضى.
Tim R. Randolph, PhD, MT(ASCP) Chair and Associate Professor Department of Clinical Laboratory Science Doisy College of Health Sciences Saint Louis University.
A Brief Overview of Hemoglobin Electrophoresis Sarah Walter, M.D.
ERRORS IN THE DETECTION AND IDENTIFICATION OF HEMOGLOBIN VARIENTS Peter J. Howanitz MD Professor and Vice Chair Department of Pathology SUNY Downstate,
Thalassaemia: Pathogenesis and Lab Diagnosis Dr. M Sadequel Islam Talukder MBBS, M Phil (Pathology), MACP Assistant Professor Department of Pathology Dinajpur.
MLAB Hematology Keri Brophy-Martinez Unit 7: Anemia.
The Thalassemias. Thalassaemias are reduced rateGroup of genetic disorders that result from a reduced rate of synthesis of α or β chains. They are the.
HEMOGLOBIN. Synthesis of Hemoglobin Types of Haemoglobin HbA ( Alpha2 Beta2) HbA2 ( Alpha2 Delta2) Hb A1c HbF ( Alpha2 Gamma2) Gower I ( Zeta2 Eeta2)
Blood is a liquid tissue consists of cells suspended in a liquid called plasma. These cells are: R ED B LOOD C ELLS W HITE B LOOD C ELLS P.
Week 3: Hemoglobinopathies Hemoglobinopathies Hemoglobinopathies Thalassemia genetics Thalassemia genetics Hb synthesis Hb synthesis Hb A, A2, F Hb A,
Anemia Lab MHD I November 3, Case 1 A CBC is ordered on a 32-year old healthy man as part of a life-insurance policy evaluation.
Sickle-Cell Anemia Homozygous Dominant (HbA, HbA) – normal hemoglobin Homozygous Recessive (HbS, HbS) – abnormal hemoglobin Heterozygous (Hb A, Hb S) –
Iron Deficiency Anemia Diagnostic Tests. Complete Blood Count (CBC): Hemoglobin – Males (< 13.5 g/dL), Females (< 12 g/dL) Hematocrit – Males (< 41%),
+ FARZANEH ASHRAFI Hematologist, Oncologist Isfahan University of Medical Sciences.
Objectives 1. Methods used to measure the different hematological values, and compare it with the normal values. 2. The calculation of RBC indices, their.
SICKLE CELL ANEMIA M.Murat Güçlü 224 EFE DEMİR – B.
Role of iron deficiency anemia in the propagation of beta thalassemia gene Usman, M., Moinuddin, M., Ahmed, S.A. (2011) Korean J Hematol 46: Microcytic.
Peripheral Smear Sarmishtha Ghosh Physiology. CBC TOTAL RBC COUNT TOTAL WBC COUNT PERIPHERAL SMEAR –SHAPE, SIZE & COLOR OF RBCs –DIFFERENTIAL WBC COUNT.
Anemias - continuation. Blood Picture in Megaloblastic anaemia Variable degree of anemia, may reach a low of 2-3g/dl. MCV increased >100 fl, maybe up.
Hemoglobinopathies. Hemoglobin is the molecule that carries oxygen in the blood. It is contained in red blood cells. Globin Heme (porphyrin ring, red)
Red Blood Cell Indices. Red blood cell indices :are measurement that describe the size and oxygen carrying protein (HB) content of red blood cells. The.
A new formula for detecting thalassemia trait by Dr Naader Noory
CLINICAL PRESENTATION OF ANEMIA Anemia is most often recognized by abnormal screening laboratory tests. The gradual onset of anemia, particularly in.
LAB (3) ANEMIA. 30 years old female come to outpatient clinic suffering from easy fatigability & breathlessness on exertion. by.
CP Case Conference Martin Ishikawa. Case 73 yo AA female – geriatric clinic visit to establish care PMHx: osteoarthritis, migraines, DM,
Eric Niederhoffer SIU-SOM What affects the normal functions of an erythrocyte? A 4-year-old African boy is brought in by his adoptive parents who say that.
Hemoglobin and its types Presents to you by ABOUT DISEASE.CO TEAM.
Hemoglobin Disorders Sickle cell anemia and Thalassemias Prepared by : Ahmed Ayasa Supervised by :Dr. Abdullateef Al Khateeb 1.
BLOOD AND BODY DEFENCE Dr. Amel Eassawi Dr. Abdelrahman Mustafa 1.
Hemoglobin A 2 Practical Hematology Lab - LAB 6 -.
Thalassemias Troy Phillips DO Assistant Professor VCOM Carolinas & Spartanburg Family Medicine Residency
Clinical pathology: Complete Blood count GENERAL OBJECTIVE: After finishing lab activity of CBC, the student will be able to describe the CBC in the DMS.
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