Severe intrauterine anemia: a new form of       thalassemia presenting in utero in a Norwegian family

Abstract

| 1157 |Severe intrauterine anemia of unknown cause presents a diagnostic challenge. We describe a Norwegian case, managed successfully by intrauterine transfusions, that further investigations demonstrated to be due to a rare type of thalassemia. A deletion of the 5' end of the β globin gene cluster was characterized, the breakpoints sequenced and a new type of εγγδβ thalassemia identified. This case highlights the need to consider diagnoses of rare conditions not normally associated with a particular population.

A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia

“… in 1972 were the first to describe the epsilon gamma delta beta (εγδβ)‐thalassemias, a group of rare sporadic disorders caused by deletions of the β‐globin gene cluster. Reports originating mainly in northern Europe have since described 30 unique εγδβ‐deletions (Table ).…”

“…All affected patients are heterozygous for the deletion; homozygosity has not been encountered, presumably because it is incompatible with fetal survival. The disease presents clinically as severe neonatal anemia; transfusions are often required , also in utero . Still birth and death shortly after birth have been described in rare cases .…”

Identification and molecular characterization of a novel 163 kb deletion: The Italian (ϵγδβ)0-thalassemia

“…1C). [17][18][19] However, the 3 ′ breakpoint was located within a perfect 160-bp palindrome region that contains the deletion breakpoints of five other deletions: the Chilean (εγδβ) 0 -thalassemia; the Italian G γ( A γδβ) 0 -thalassemia; the Belgian G γ( A γδβ) 0 -thalassemia; the Pakistani I (εγδβ) 0 -thalassemia; and the Indian HPFH3. 14,16,20,21 All these five deletion breakpoints are very close to the midpoint of the palindrome and localized in a region of 18 bp, as reported in the Italian G γ( A γδβ) 0 -thalassemia.…”

“…To test the significance of these values, we looked for the phenotype of the (εγδβ) 0 -thalassemia carriers from literature (Table 2). [3][4][5][6][16][17][18][19][28][29][30] We compared (i) the Hb A2 values of the 19 (εγδβ) 0 -thalassemia Figure 3 Comparison of the HbA2 and Hb values between (εγδβ) 0 -thalassemia and α 0 -and β 0 -thalassemia carriers. (A) Histogram of the Hb A2 value of 92 heterozygotes for α 0 -thalassemia and of the 19 heterozygotes for (εγδβ) 0 -thalassemia from literature.…”

Blueberry Muffin Skin Lesions in an Infant With Epsilon Gamma Delta Beta Thalassemia

“…To our knowledge, DEE has not been previously reported in this thalassemia. [1][2][3] A 6-day-old term male neonate presented with respiratory distress, hepatosplenomegaly, and violaceous macules and papules on his face, abdomen, and lower limbs (see Figure 1). A complete blood count showed microcytic hypochromic anemia with a hemoglobin of 7.5 g/dL, requiring multiple packed red blood cell transfusions.…”