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Letters to the Editor
port. Despite efforts to manage their condition, two of the five patients reported here died, one during the neonatal period and one at 2 months. Even though the other two cases survived during the neonatal period, one of them (GO 012/13) succumbed during infancy due to complications of anemia and the other is not traceable after 2 months. Further details of the obstetric history of
these families are provided in Figure 1 and the Online Supplementary Table S2.
Among the five live-born homozygous SAO cases, three of them had severe anemia at birth and two of them developed it at 26 weeks (GO/01/10) and 25 weeks (GO 012/13). All except GO 001/14 had hydrops fetalis and hepatosplenomegaly (Table 1). Physical examination
Table 1. Comparison of five Malaysian live-born homozygous Southeast Asian ovalocytosis (SAO) cases with a previously reported Comorian homozy- gous SAO case.
Case
Gestation (weeks)
Living status
Anemia
Hydrops fetalis Hepatosplenomegaly Physical examination
Full blood picture
Patient genetics
Complication and management
GO 003/10
34
Died at 6 hours of life
Severe anemia at birth (Hb 4.9 g/dL)
Yes Yes Pale
GO 010/10
35
Died at 2 months old
Severe anemia at 26 weeks gestation (Hb 2.4 g/dL)
Yes
Yes Bronzed
GO 001/14
33
Not known
Severe anemia
at birth (Hb 5.0 g/dL)
No
No
Pale, jaundiced
Severe anemia with marked reticulocytosis, NRBC, many spherocytes and microspherocytes. Theta cells also observed.
Homozygous SAO deletion
1. Ventilated after birth.
2. Exchange transfusion
at 5 hours of life. 3. Six episodes
of hemolysis within 42 days of life (all required packed cell transfusion).
4. Hematinic prescribed.
GO 012/1314
35
Died at 24 months old
Severe anemia at 25 weeks gestation (Hb 3.0 g/dL); Hb 7.4 g/dL at 4 months old
Yes
Yes
Good APGAR, very pale, jaundiced, tachypnoiec
Hypochromic microcytic cells, elliptocytes as well as teardrop cells were observed.
Homozygous SAO deletion
1. Intrauterine transfusion
at 25 weeks
due to fetal anemia and hydrops fetalis. 2. 2-weekly transfusions from 1 month old.
3. Developed renal tubular acidosis type I due to persistent metabolic acidosis and hypokalemia.
Age at diagnosis Sex Race/nationality
Newborn Male Malay
15 days old Male Malay
3 months old Male Malay
Newborn Male Malay
4 months old Male Malay
No data Male
Comoria
GO 009/16
30
Died within few hours of life
Severe anemia
at birth (Hb 2.0 g/dL)
Yes
Yes
Very pale, born not vigorous, poor APGAR score, umbilical bleeding
Spherocytosis with polychromasia. Severe anemia
with marked reticulocytosis, NRBC,
many spherocytes and microspherocytes. Theta cells also seen. Normal platelets.
Homozygous SAO deletion
1. Ventilated after birth.
Comorian SAO homozygote4,13
29
Alive,
10 years old
(2020)
Severe anemia at 22 weeks gestation (Hb 2.9 g/dL)
Yes No data No data
Rich erythroid
lineage. Large ovalocytes, large reticulocytes and macrocytes. Normal myeloid and megakarytocyte lineages.
Homozygous SAO deletion, b globin “La De’sirade”, α thalassemia
1. Montly transfusions since birth.
2. dRTA (3 months old) treated with oral
sodium bicarbonate and potassium gluconate.
3. High ferritinemia (6 months old) treated with deferoxamine mesilate.
4. 10 years old (2020): still undergoing regular transfusions,
iron chelation, and acidosis treatment.
n
Many elliptocytes, stomatocytes,
and NRBC. Normal platelet count. Leucoerythroblastic picture and neutrophilia
Homozygous SAO deletion
1. Required intubation (ventilatory and
inotropic support). 2. Packed cell transfusion after birth but died within few hours of life.
Many spherocytic RBC, crenated RBC, fragmented RBC, NRBC, and reticulocytes. Slightly reduced platelet (adequate for hemostasis, no clumping noted).
Homozygous SAO deletion
1. Intrauterine transfusion twice due to fetal anemia at 26 weeks.
2. Ventilated after birth.
3. Packed cell
transfusion at day 5 of life.
DRTA: distal renal tubular acidosis; Hb: hemoglobin; NRBC: nucleated red blood cell; PCR: polymerase chain reaction; RBC: red blood cell; SAO: Southeast Asian ovalocytosis; APGAR score: appearance, pulse, grimace, activity, and respiration score.
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