NEWLY DIAGNOSED CASE OF Β-THALASSEMIA IN PREGNANCY
Buruiana Sanda, Olga Popusoi, Maria Robu and Victor Tomacinschii
SUMPh ,,Nicolae Testemițanu”, Chișinau, The Republic of Moldova
Aims & Objectives: β-thalassemia refers to a highly common hereditary hematological
disorder, caused by depletion or absence of the β-globin synthesis. The aim of this paper is to
describe a case of a newly diagnosed β-thalassemia during pregnancy.
Patients/Materials & Methods: A 30-week-old pregnant woman (the first task) for 29 years
presented to the anemic syndrome. During the last three months at the onset of hypochromic
anemia, microcytes in CBC receive substitution treatment with iron supplements, but without
efficacy. Hb values tend to decrease to 8.0-9.0 g/dl. For this reason, the consultation of the
hematologist was requested.
General condition of medium severity. Pale skin with a faint jaundice of the sclera and mucous
membranes. Peripheral lymph nodes do not palpate. On systems and organs-without
peculiarities. The liver and spleen were not palpable due to the enlarged abdomen due to
pregnancy.
CBC revealed Hb- 8.3g/dl, reticulocytes - 3.65% (N 0.2-2), Ht-27.4%, MCV-66.1 fL (N 81-100),
MCH-21.6 pg/cell (N 27-34), MCHC-30 g/dl (N 33-36), RDW-17.9% (N 11.6-14.8), Bilirubin
total: 19.30 mg/dl, Bilirubin indirect: 12.1 mg/dl, ferritin-50.2 μg/l (N 15-160).
Results: Given the subictericity, the Bulgarian nationality, the lack of efficacy in iron
preparations, Hb decreasing but Feritin within the norm was the reason for indicating
additional research such as Hb electrophoresis: A -93,8 % (N 96,7-97,8), A2 – 5,3 % (N 2,2-3,2),
F 0,9 (N ≤ 0,5), so we can establish the diagnosis of minor β-thalassemia. Hematological
diagnosis is presumptive, and DNA analysis becomes necessary.
Discussion & Conclusion: Researches prove that ß-thalassemia is one of the most frequent
genetic diseases worldwide, with a range of ethnically and geographically distributed
mutations. The incidence of thalassemia carriers is high in regions such as Mediterranean,
Indian subcontinent, Middle East, South China and Southeast Asia. Thalassemia minor results
in a variable degree of the disease, usually presents as asymptomatic anemia of mild degree.
Healthy pregnancy outcomes have become the expectation in women with thalassemia and
provided that a multidisciplinary team is available, gestation can be completely safe for both
mother and child. β-thalassemia minor does not influence the pregnancy outcome in the
negative way significantly.
POSTER 17
SCIENTIFIC PROGRAMME
SESSION I
BONE MARROW
RESPONSE TO VIRAL
INFECTIONS
SESSION II
HAEMATOLOGICAL
RESPONSE TO SARS
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DYSERYTHROPOIESIS IN
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SESSION V
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SESSION VI
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SESSION VII
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SESSION VIII
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