Open Access Review Article

Early Diagnostics of Beta Thalassemia Minor

Archana Singh Sikarwar, Mohd Farid Bin Dato’ Seri Haji Abdul Rahman

International Blood Research & Reviews, Page 1-8
DOI: 10.9734/IBRR/2015/16178

Early diagnosis of disease is highly recommended for the treatment purposes by the clinicians. Thalassemia is a genetic disorder which can be inherited from the parents. Thalassemia is classified into two groups alpha thalassemia and beta thalassemia depending upon the severity of the infants. The methods for early diagnosis of beta Thalassamia which is currently used in some diagnostic labs, for instances, current direct and indirect mutation detection method. Recently, most researchers have been discovered the latest or emerging methods to improve the technology in order to minimize invasive methods that may be used as a routine procedure for the future which is better than current methods, like pre-implantation genetic diagnosis and non-invasive prenatal diagnosis. For current methods, chorionic villi sampling (CVS) and amniocentesis are used whereas blastomere biopsy is used for pre-implantation genetic diagnosis. Hence, non-invasive prenatal diagnosis can be perfomed by using fetal cells which is found in maternal plasma such as trophoblasts, erythrocytes and leucocytes. Emerging methods for early diagnosis of beta thalassaemia minor are much safer than current methods that will minimize the risk and less invasive to the patients.

 

Open Access Review Article

Approach to Anaemia Diagnosis in Developing Countries: Focus on Aetiology and Laboratory Work-Up

S. Adewoyin Ademola

International Blood Research & Reviews, Page 1-13
DOI: 10.9734/IBRR/2015/19078

Introduction: Anaemia is a significant public health problem in developing countries. Anaemia is never normal. The etiology of the anaemia should always be sought. Diagnosis of its cause and early treatment is crucial to improving the quality of life among affected persons. There is a need to provide practicing physicians with a good theoretical framework and a practical algorithm for arriving accurately at anaemia diagnosis.

Objective: This article seeks to collect, collate and concisely review anaemias with emphasis on the prevalent aetiologies and laboratory diagnosis in developing countries

Results: The etiology of anaemia in developing countries is myriad and requires accurate diagnosis. Nutritional (substrate) deficiencies and chronic diseases account for a significant proportion of acquired anaemias. The predominating inherited causes include haemoglobinopathies, red cell enzymopathies and membranopathies. A systematic approach will help the physician paddle through the large list of differentials, to cone down on precise diagnosis. Relevant clinical history, physical examination and baseline investigations are imperative. Further evaluations should be conducted in unresolved cases using suggested practical algorithms such as the morphologic and/or kinetic approach.

Conclusion: Baseline investigations including full blood count, reticulocyte count and peripheral blood film should be requested on patients presenting with anaemia. Relevant authorities should ensure availability of these basic tests in all health facilities. Consultations with hematology unit should be engaged when necessary.

 

Open Access Original Research Article

Cerebrovascular Disease in Children with Sickle Cell Disease: Is There Any Need for Iron Therapy?

I. O. George, A. I. Frank-Briggs

International Blood Research & Reviews, Page 1-5
DOI: 10.9734/IBRR/2015/18154

Background: Iron deficiency is a common problem affecting children world-wide. It has been recognized to have an association with stroke. The aim of this study was to evaluate the prevalence of iron deficiency anaemia among children with sickle cell anaemia with cerebrovascular accident and the need for iron therapy.

Materials and Methods: All cases of cerebrovascular disease in children with sickle cell anaemia presenting in the department of Paediatrics of the University of Teaching Hospital were prospectively investigated for serum ferritin, haemoglobin, and MCV, MCHC and blood film.

Results: A total of 152 children with sickle cell disease were seen during this period. One hundred and forty nine had HbSS genotype while 3 had HbSC genotype. Cerebrovascular disease was diagnosed in 7 patients giving a prevalence rate of 4.6%. Of these, 2(28.6%) had low serum ferritin levels (P=0.09) with hypochromia and microcytosis.

Conclusion: Iron deficiency anaemia is not uncommon among sickle cell patients with cerebrovascular disease. There is need for elaborate iron study in these patients so as to identify at risk cases and institute prompt treatment.

 

Open Access Original Research Article

Level of Pentraxin-3 in Patients with Acute Leukemia in Septicemia and Its Prognostic Value

Ashraf Elghandour, Hashem Naenaa, Mohamed Eldefrawy, Magdy Elbordeny, Hadeer Mohammed

International Blood Research & Reviews, Page 1-7
DOI: 10.9734/IBRR/2015/17737

Introduction: In acute leukemia, sepsis is potentially fatal. Pentraxin3 is a protein rapidly produced in response to primary inflammatory signals. It shows high levels in sepsis, specially associated with vascular and end-organ damage.

Aim of the Work: To measure the level of PTX3 in sepsis in patients with acute leukemia and correlate its level to higher risk of complications compared with CRP.

Study Design: Prospective study.

Place and Duration of the Study: Department of hematology, Alexandria main university hospital, from April 2012 to August 2013.

Methods: The study included 60 patients, they had routine workup for leukemia. Serum CRP and plasma PTX3 levels were measured with ELISA on days 1, 2, 3 of febrile neutropenia after chemotherapy.

Results: Male to female ratio 1:1, age ranged from 18 to 62 years (median of 40 yrs). 41 patients suffered from acute myeloid leukemia, and 19 from acute lymphoblastic leukemia. High PTX3 levels on the 1st day of sepsis have been a strong indicator for development of complications (septic shock and mortality) (P=.001) compared to CRP (P=.032). High PTX3 level has been associated with coagulation impairment (P=.001). PTX3 showed sensitivity of 100% and specificity of 70% for prediction of bad prognosis, whereas CRP showed sensitivity of 88.5% and specificity of 60.5%.

Conclusion: PTX3 is highly recommended in diagnosis of sepsis in patients with acute leukemia during neutropenia and it shows high sensitivity and specificity in prediction of bad prognosis (septic shock, coagulation impairment and mortality) in comparison with CRP.

 

Open Access Case Study

Case Report: Portal Vein Thrombosis as a Cause of Haematemesis in a Healthy African Adolescent

F. A. Fasola, A. Akere, F. O. Fowodu

International Blood Research & Reviews, Page 1-6
DOI: 10.9734/IBRR/2015/17982

Introduction: Thromboembolic incidents typically occur as deep vein thrombosis of the limbs and pulmonary embolism but can also occur in unusual sites such as cerebral or sinus, mesenteric, portal, hepatic renal and retinal veins. When thromboembolism occurs in any of these unusual sites, diagnosis is often unsuspected and missed. The relatively low incidence of thrombosis in healthy children further presents a potential diagnostic dilemma. High index of suspicion is therefore required for timely diagnosis in order to prevent complications.

Presentation of Case: We report a case of a 15 year-old girl with 10 years history of recurrent haematemesis. She was managed initially as a case of upper gastrointestinal bleeding of unknown aetiology and subsequently as a case of chronic liver disease and then later, as case of bleeding diathesis. The patient had several oesophageal variceal band ligation, courses of propranolol, omeprazole, livolin and several units of blood transfused. Abdominal ultrasound, Computed Tomographic scan of abdomen and angiography revealed portal vein thrombosis with periportal collaterals. The proteins C and S levels were low. A diagnosis of portal vein thrombosis (PVT) secondary to Proteins C and S deficiencies was then made. Patient has been symptom free since commencement of anticoagulation but there was no recanalization of the vessels.

Conclusion: The potential role of prothrombotic risk factors and PVT should be explored in paediatric age group with gastrointestinal bleeding for early diagnosis and management to reduce complications.