Research Article
Open Access
Hematological Characterization of Beta Thalassemia
in Sudanese Patients
Rabab Hassan Elshaikh1*, Sanaa Elfatih Hussein2
1Department of Hematology and Immunohematology, Faculty of Medical Laboratory Sciences, University of Technology and
Science, Sudan
2Assistant professor, Faculty of medical laboratory science, University of Gezira, Sudan
2Assistant professor, Faculty of medical laboratory science, University of Gezira, Sudan
*Corresponding author: Rabab Hassan Elshaikh, 1Department of Hematology and Immunohematology, Faculty of Medical Laboratory Sciences, University
of Technology and Science, Sudan, E-mail: @
Received: December 6, 2019; Accepted: December 8, 2019; Published: December 18, 2019
Citation: Rabab Hassan E, Sanaa Elfatih H (2019) Hematological Characterization of Beta Thalassemia in Sudanese Patients Int J
Stem Cells Res Ther 1(1): 1-4.
AbstractTop
Thalassemia is common inherited disorder among humans, and they represent a major public health problem in many areas of the world. The
study aimed to measurement of hematological characterization of beta thalassemia in Sudanese patients. Blood samples from 61 beta thalassemic
patients were collected after written consent form obtained from all participants. The frequency of Adults (>18 years) were 45 (73.8%), and
Children’s (< 18 years), were 16 (26.2%) the frequency of male was 27 (44.3%) and 34 were females (55.7%). Hemoglobin estimation and red cell
indices were carried out using the automatic blood cell counter Sysmex KX21N. The results showed Hb and RBCs indices were vared between mild
to moderate and severe decreasing, Hemoglobin concentration (Hb) with the mean value of 9.6 g/dL, with minimum value of 6.1g/dl and maximum
of 11.9g/dl, while RBCs was increased in all patients, mean value 5.2c/l, Mean corpuscular volume (MCV) mean was 58.9 fl, hematocrit was 30.4,
mean corpuscular hemoglobin (MCH) 18.8 pg, mean corpuscular hemoglobin concentration (MCHC) was 31.7pg and RDW was 18.8%, The method
used for hemoglobin electrophoresis was cappilary electrophoresis, Hb pattern shows increased HbA2 and HbF, the mean of HbA is 78.3%, HbF is
2.3%, and HbA2 is 6.5% with the min value of 3.6% and max of 12.2% . While The mean of serum iron was 82.75ug/dl, 7 patients showed low level,
19 high level and 35 was normal level. Comparison of hematological analysis (HbA2) in thalassemic patients coexisted with Iron deficiency and
without result was insignificant difference (p = 0.645) this result disagree with references that say iron deficiency masking HbA2. Nevertheless the
association between HbA2 and HbF revealed a statistically significant difference (p < .013) and HbA2 with Hb was insignificant (p =.260).
Keywords: Thalassemia; RBCs indices; Hb electrophoresis; CBC; Iron; Sudan.
Keywords: Thalassemia; RBCs indices; Hb electrophoresis; CBC; Iron; Sudan.
IntroductionTop
Thalassemia is a Mendelian autosomal recessive heritable
blood disorder it’s a group of genetically determined microcytic,
hypochromic anemia’s resulting from a decrease in synthesis of
one or more globin chains in the hemoglobin molecule [4]. The
most common types are alpha and beta thalassemia according to
which globin chain is reduced [15]. Beta thalassemia is classified
into three types depending on the severity of symptoms:
thalassemia major also known as Cooley’s anemia, [8, 16].
Thalassemia intermediate and thalassemia minor, thalassemia
major is more severe. The signs and symptoms of thalassemia
major appear within the first 2 years of life, Children develop
life-threatening anemia, and they do not gain weight and grow at
the expected rate (failure to thrive) and may develop yellowing
of the skin and whites of the eyes (jaundice) [18]. Affected
individuals may have an enlarged spleen, liver, heart, and their
bones may be misshapen. Some adolescents with thalassemia
major experience delayed puberty. Many people with thalassemia
major have such severe symptoms that they need frequent blood
transfusions to replenish their red blood cell supply over time,
an influx of iron-containing hemoglobin from chronic blood
transfusions can lead to a buildup of iron in the body, resulting
in liver, heart, and hormone problems. Thalassemia intermedia
are milder than thalassemia major [17]. The signs and symptoms
of thalassemia intermedia appear in early childhood or later
in life. Affected individuals have mild to moderate anemia and
may also have slow growth and bone abnormalities [14]. The
disorder may occur in the homozygous or heterozygous state.
Heterozygotes may be asymptomatic but Homozygotes typically
have a severe, often fatal, disease. It involves increased (HbA2)
and decreased production of normal adult hemoglobin (Hb
A), the predominant type of hemoglobin from soon after birth
until death [7]. Mostly the patients are diagnosed on routine
blood examination. Beta Thalassemia carrier it is commonly not
diagnosed until adolescence or adult life, and may be detected
in a routine hematological screening examination. The red Cell
indices, Hb Electrophoresis and molecular studies give more
reliable diagnosis. In thalassemia trait MCV and MCH are low
while MCHC is marginally reduced or normal. Hemoglobin
electrophoresis and molecular study is essential for definite
diagnosis of β-thalassemia cases. Normally Hb A2 is less than
3.2% but in Βeta- thalassemia trait it is more than 3.5% [1].
Materials And MethodsTop
Across-sectional descriptive study was carried out to detect
hematological characterization of Beta-Thalassemia Sudanese
patient in Khartoum State Sudan, during the period of July 2017
to July 2019. From each patient, 2.5 ml of venous blood sample
was collected in sterile EDTA container. The blood samples were analyzed for Complete blood count (CBC) using the automated
hematology analyzer Sysmex KX21N, (manufactured by Sysmex
corporation Kobe, Japan) within 24 hours of blood collection.
On the same day itself the blood samples were screened for
Haemoglobinopathies by Hb electrophoresis method (Sebia,
France). The inclusion criteria Patients were diagnosed as
Beta –thalassemia, availability of patient demographic data
and laboratory reports, (CBC, Hemoglobin electrophoresis, and
peripheral blood picture, Iron studies), Patients not diagnosed
as Beta-thalassemia or coexisted with other hemoglobin variants
or with other hematological malignancy excluded from the study.
Permission of this study was obtained from the local authorities
in the area of the study. The objective of the study explained to
all individuals participating in this study. An informed written
consent obtained from all participants.
ResultsTop
Out of 61 beta-thalassemic patients the frequency of Adults
(>18 years) was 45(73.8%), and 16 (26.2%) was Childrens (18
years) and the frequency of male to female was 27 of the patients
were males (44.3%) and 34 were females (55.7%) as shown in
table (1) Hemoglobin estimation and red cell indices were carried
out using the automatic blood cell counter Sysmex KX21N. The
results obtained were as follow: Hemoglobin concentration (Hb)
with the mean value of 9.6 g/dL, with minimum value of 6.1g/dl
and maximum of 11.9g/dl, while RBCs was increased in all patients
with mean value of 5.2c/l, Mean corpuscular volume (MCV) mean
was 58.9 fl, hematocrit was 30.4, mean corpuscular hemoglobin
(MCH) 18.8 pg, mean corpuscular hemoglobin concentration
(MCHC) was 31.7pg and RDW was 18.8%, as shown in table (2).
The method used for hemoglobin electrophoresis was cappilary
electrophoresis the Hb pattern shows increased HbA2 and HbF,
the mean of Hb A is 78.3%, HbF is 2.3%, and HbA2 is 6.5% with
the min value of 3.6% and max of 12.2% as shown in table (3).
The mean of serum iron was 82.75ug/dl, 7 patients showed low
level, 19 high level and 35 was normal level, table (4) and figure
(1, 2 and 3). Table: 1, 2, 3, 4.
Figure 1: Frequency of Iron level in study group.
Figure 2: Frequency of Iron level in study group.
Figure 3: Frequency of Iron level in study group.
Table 1: Gender and Age distribution in the study group
Frequency |
Percent |
|
Gender |
||
Male |
27 |
44.3 |
Female |
34 |
55.7 |
Age group(y) |
||
<18 |
16 |
26.2 |
>18 |
45 |
73.8 |
Table 2: Mean and standard deviation of Hb and RBCs indices in the study group
Parameters |
Hb/g/d |
HCT |
RBCs |
MCV |
MCH/pg |
MCHC/pg |
RDW% |
Mean |
9.618 |
30.364 |
5.197 |
58.882 |
18.761 |
31.657 |
18.825 |
Std. Deviation |
1.3214 |
3.6247 |
0.7394 |
6.5545 |
2.9306 |
1.7615 |
2.9644 |
Minimum |
6.1 |
18.8 |
3.2 |
44.2 |
13.3 |
27.2 |
12.5 |
Maximum |
11.9 |
36.2 |
6.7 |
76.4 |
27.2 |
35.6 |
23.3 |
Table 3: Hb electrophoresis pattern in thalassemic patients
Hb electrophoresis parameters |
HbA2/% |
HbF/% |
HbA/% |
Minimum |
3.6 |
0.4 |
70.1 |
Maximum |
12.2 |
10.4 |
92.7 |
Mean |
6.498 |
2.277 |
78.289 |
Std. Deviation |
1.3895 |
1.9511 |
3.2221 |
Table 4: Hb electrophoresis pattern in thalassemic patients
Iron result |
|
Mean |
82.75 |
Std. Deviation |
29.112 |
DiscussionTop
For 61 beta-thalassemic patients, Hemoglobin estimation
and red cell indices were carried out using the automatic blood
cell counter Sysmex KX21N. The results obtained were; overall
mean haemoglobin concentration (Hb) was decreased 9.6 g/dl.
Red blood cell count (RBCs) 5.19×1012 cell/L was found to be
raised. Red blood cell indices were found to be low ( packed cell
volume mean cell volume (MCV) 58.9 fl, mean cell haemoglobin
(MCH) 18.8 pg, mean cell haemoglobin concentration (MCHC)
31.7 g/dl, red cell distribution width (RDW) 18.8)this results
agreed with several studies in literature eg. [9] Specially with
Dr. Sana, 2013 literature. Also this study agreed with the data
mentioned in thalassemia international federation (TIF). Hb
electrophoresis was measured by capillary electrophoresis
results shows mean of HbF is 2.3% which was high, and HbA2 is
6.5% with the min value of 3.6% and max of 12.2% also shows
significant increase which agreed with several studies eg. [5]. The
mean of serum iron was 82.75ug/dl, 7 patients showed low level,
35 was normal level and 19 high levels those are mainly due to
blood transfusion, unfortunately data of blood transfusion was
missing in this study, Many studies shows similar result unless in
recurrent transfused thalassemic patients levels are much higher.
Comparison of hematological analysis (HbA2) in thalassemic
patients coexisted with Iron deficiency and without result was
insignificant difference (p = 0.645) this result disagree with many
references that say Iron deficiency masking HbA2. Nevertheless
the association between HbA2 and HbF revealed a statistically
significant difference (p < .013), that means there is positive
correlation between HbA2 and Hb F. and the correlation between
HbA2 with Hb was insignificant (p =.260).
AcknowledgementTop
ConclusionTop
This study was detected the hematological characterization
of beta thalassemia the results obtained for Hb, RBCs indices,
and Hb electrophoresis were agreed with several studies, In
areas where modern equipment’s for diagnosis are not available,
the red cell indices and Hemoglobin electrophoresis gives more
reliable diagnosis for beta thalassemia and molecular study
provide definitive diagnosis. Since there are no symptoms for
beta thalassemia trait it’s very important to discover at early as possible from routine hematological test to prevent beta
thalassemia major offspring’s.
AcknowledgementsTop
The authors are grateful to Staff of pediatric teaching hospital
for helping in sample collection. Special thanks to my family for
their support, encouragement and patient.
Conflict of InterestTop
Authors declare that no conflict of interest exist in this paper.
ReferencesTop
- Frank Firkin, C.chesterman, D.Penington and B.Rush.De Gruchys Clinical Hematology in Medical Practice. 5th ed.United States: Wiley; 1989.
- International Federation, Guidelines to the Clinical Management of Thalassemia. 2000 (World Bank 2006, report of a joint WHO-March of Dime meeting 2006). (TIF).
- Androulla Eleftheriou and Micheal Angastiniotis, 1996. Thalassemia international federation, 1986, report of a joint WHO. Hematological indices most commonly found in patients with thalassemia, Hemoglobinopathesis B-thalassemia booklet 1, ISBN: 978 - 996, 24 No 11
- Hoffbrand AV, Catovsky D and Edward GD. Postgraduate haematology. 5th ed. United Kingdom, Blackwell publishing; PP. 85-103.
- Sana E. Molecular Genetics of Beta Thalassaemia in Sudan Paperback. Lambert Academic publishing; 2013.
- Thein SL.Pathophysiology of β thalassemia—A guide to molecular therapies. Hematology Am Soc Hematol Educ Program 2005,31–37.doi: 10.1182/asheducation-2005.1.31
- Thein SL. Genetic modifiers of the betahaemoglobinopathies. Br J Haematol;2008,141:357-66.doi: 10.1111/j.1365-2141.2008.07084.x
- Thomas B. Cooley. Disorders of the blood Brennemann, J.: Practice of pediatrics, Hagerstown Md, WF Prior Company, Inc 3. 1945.
- Galanello R, Melis MA, Ruggeri R, Addis M, Scalas MT, Maccioni L, etal., Beta0 thalassemia trait in Sardinia. Hemoglobin. 1979; 3(1): 33-46. doi:10.3109/03630267909069153
- Tahir Jameel, Mukhtar Baig, Liaz Ahmed, Muhammad Barakat and Motlag Alkhamaly. Differentiation of beta trait from IDA by hematological indices. Pak J MedSci.2017; 33(3): 665-669. doi: 10.12669/pjms.333.12098
- Idit LR, Boaz L, Guy K, Carina L, Luci Z and Ariel K. Detection of thalassemia carrier by red cell parameters obtained from Automatic Counters using Mathematical Formulas. Mediterr J Hematol Infect Dis.2018;10(1); doi: 10.4084/MJHID.2018.008
- Abbas MY Haematological parameters in Sudanese children with sickle cell disease. American Journal of Research Communication.2014; 2(2):20-32.
- Mohammed Omer, Mubarak El Saeed, Munsour Mohammed, El Yasaa Ahmed etal, Screening of hemoglobinopathy in Bija tribes and other minor groups living in Port Sudan City. JMLD. 2014; 5(4):35-40. doi:10.5897/JMLD2014.0094
- Raffaella Origa. Beta-Thalassemia. Gene Reviews.2018;
- David J. Weatherall, Genetic disorder of hemoglobin, Postgraduate haematology, 1999; 5th ed: 91-119.
- Whipple C. H and Bradford WL. Mediterranean disease- thalassemia (Erythroblastic anemia of Cooley). Associated pigment abnormalities stimulating hemochromatosis. J Pediatric. 1936; 9(3):279-311. doi:10.1016/S0022-3476(36)80021-3
- Hassan M Yaish, Robert J Arceci. Pediatric thalassemia intermedia.2009;29:9
- Piomelli S, Leow T. Mangement of thalassemia major (Cooley's anemia).Hematol Oncol Clin North Am.1991; 5(3):557-569
- 19. SEBIA, SRC Department parc technologique Leonard de Vinci CP 8010 Lisses-91008 EVRY Cedex – France