<abstract xmlns="http://www.w3.org/1999/xhtml"><sec id="j_1905-7415.0905.442_s_001_w2aab3b7c13b1b6b1aab1c16b1Aa"><h3>Background</h3><p>Southeast Asian ovalocytosis (SAO) is a red blood cell membrane disorder caused by a 27 base pair (bp) deletion in the <italic>SLC4A1</italic> that transcribes to a truncated variant of band-3 glycoprotein. β-Thalassemia is another red blood cell disorder, caused by mutant alleles in the β-globin gene that lead to globin chain impairment. Both conditions occur in Southeast Asian countries, including Malaysia.</p></sec><sec id="j_1905-7415.0905.442_s_002_w2aab3b7c13b1b6b1aab1c16b2Aa"><h3>Objectives</h3><p>This report describes hematological and molecular features of a patient with both SAO and β-thalassemia and her children.</p></sec><sec id="j_1905-7415.0905.442_s_003_w2aab3b7c13b1b6b1aab1c16b3Aa"><h3>Methods</h3><p>A 58-year-old Malay woman presented to our clinic with dizziness, tiredness, and easy fatigability. She was mildly anaemic. Analysis of her complete blood counts and her peripheral blood smear revealed microcytic hypochromic anaemia with large numbers of macro-ovalocytes and stomatocytes.</p></sec><sec id="j_1905-7415.0905.442_s_004_w2aab3b7c13b1b6b1aab1c16b4Aa"><h3>Results</h3><p>Hemoglobin and globin gene studies revealed heterozygous β-thalassemia, and further analysis demonstrated a heterozygous 27 bp deletion on the <italic>SLC4A1</italic> gene consistent with SAO. Analysis of the patient’s offspring showed co-inheritance of β-thalassemia and SAO in her elder daughter and son, and SAO alone in another daughter.</p></sec><sec id="j_1905-7415.0905.442_s_005_w2aab3b7c13b1b6b1aab1c16b5Aa"><h3>Conclusions</h3><p>High frequencies of SAO and different β-thalassemia mutations are present in the Malaysian population, thus coinheritance of SAO and β-thalassemia is not uncommon. However, this coinheritance is rarely reported, possibly because the red blood cell indices are overlooked and peripheral smear examinations are not routine.</p></sec></abstract>

BackgroundSoutheast Asian ovalocytosis (SAO) is a red blood cell membrane disorder caused by a 27 base pair (bp) deletion in the SLC4A1 that transcribes to a truncated variant of band-3 glycoprotein. β-Thalassemia is another red blood cell disorder, caused by mutant alleles in the β-globin gene that lead to globin chain impairment. Both conditions occur in Southeast Asian countries, including Malaysia.ObjectivesThis report describes hematological and molecular features of a patient with both SAO and β-thalassemia and her children.MethodsA 58-year-old Malay woman presented to our clinic with dizziness, tiredness, and easy fatigability. She was mildly anaemic. Analysis of her complete blood counts and her peripheral blood smear revealed microcytic hypochromic anaemia with large numbers of macro-ovalocytes and stomatocytes.ResultsHemoglobin and globin gene studies revealed heterozygous β-thalassemia, and further analysis demonstrated a heterozygous 27 bp deletion on the SLC4A1 gene consistent with SAO. Analysis of the patient’s offspring showed co-inheritance of β-thalassemia and SAO in her elder daughter and son, and SAO alone in another daughter.ConclusionsHigh frequencies of SAO and different β-thalassemia mutations are present in the Malaysian population, thus coinheritance of SAO and β-thalassemia is not uncommon. However, this coinheritance is rarely reported, possibly because the red blood cell indices are overlooked and peripheral smear examinations are not routine.

Coinheritance of Southeast Asian ovalocytosis and the β-thalassemia trait in a Malay family

Asian Biomedicine

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

BackgroundSoutheast Asian ovalocytosis (SAO) is a red blood cell membrane disorder caused by a 27 base pair (bp) deletion in the SLC4A1 that transcribes to a...

Parameters	SAO	Coinheritance of SAO and β-thalassemia trait			Control Parameters for pure β thalassemia trait and controls were derived from randomly selected subjects for the purpose of comparison. NE = not examined			Pure β thalassemia trait Parameters for pure β thalassemia trait and controls were derived from randomly selected subjects for the purpose of comparison. NE = not examined
Parameters
	K3 (2nd daughter)	K1 (propositus)	K2 (1st daughter)	K4 (Son)	Female (n = 10)		Male (n = 10)	Female (n = 10)		Male (n = 10)
Full blood counts
RBC(10¹²/L)	4.6	4.6	5.0	6.0	4.3±0.8		5.1 + 1.0	4.3±0.7		5.4±0.9
Hb(g/dL)	13.3	10.2	10.0	12.5	12.6±2.0		14.3 ±2.3	11.6 + 0.5		13.4±1.2
Hematocrit (%)	37.2	31.8	31.1	37.9	38.4 ±5.3		43.5±6.1	36.3 ±2.0		42.0±4.3
Mean corpuscular volume (fL)	80.9	68.1	62.1	63.0	88.7 ±8.5		86.3 ±8.4	76.7 ±3.8		73.1+ 3.5
Mean corpuscular hemoglobin	28.9	21.8	20.0	20.8	29.1±3.2		28.9 ±2.9	25.3 ±1.8		24.0±1.3
(MCH)(pg)
MCH concentration (g/dL)	35.8	32.1	32.2	33.0	32.8 ±2.5		33.5+2.1	31.5±1.0		32.8±1.0
Red cell distribution width-CV	14.6	17.2	16.3	19.4	13.8 + 1.9		17.2 ±2.0	15.2±0.6		14.9±2.0
RDW-SD	42.9	41.1	35.2	40.2	46.1±5.1		46.3 ±4.8	38.1±3.2		38.4 ±2.8
Peripheral blood smear
Ovalocytes	Yes	Yes	Yes	Yes		No			No
Macrocytes	Yes	No	No	No		No			No
Microcytes	No	Yes	Yes	Yes		No			Yes
Stomatocytes	No	Yes	Yes	Yes		No			No
Hypochromic microcytosis	No	Yes	Yes	Yes		No			Yes
Hb Analysis
HbA₂(%)	3.0	5.0	5.7	6.0		1-3			6.0±0.8
HbF(%)	0.3	1.5	3.6	2.2		<1			2± 1
Hematological and clinical features
Anaemia	No	Mild	Mild	No		No			Mild
Dizziness	Yes	Yes	No	No		NE			NE
Tiredness	Yes	Yes	Yes	No		NE			NE
Shortness of breath	Yes	Yes	Yes	No		NE			NE

Coinheritance of Southeast Asian ovalocytosis and the β-thalassemia trait in a Malay family

Article Category: Clinical report

Online veröffentlicht: 31. Jan. 2017

Seitenbereich: 691 - 695

DOI: https://doi.org/10.5372/1905-7415.0905.442

Schlüsselwörter
Malaysia, red blood cell membrane, Southeast Asian ovalocytosis, β-thalassemia trait

© 2015 Yamunah Raman, Mohamed Saleem, Rahimah Ahmad, Narazah Mohd Yusoff

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Comparison of hematological features of patients with both Southeast Asian ovalocytosis (SAO) and the β-thalassemia trait, pure SAO, the pure β-thalassemia trait, and controls. Values are presented as mean± SD.

Coinheritance of Southeast Asian ovalocytosis and the β-thalassemia trait in a Malay family

Article Category: Clinical report

Online veröffentlicht: 31. Jan. 2017

Seitenbereich: 691 - 695

DOI: https://doi.org/10.5372/1905-7415.0905.442

SchlüsselwörterMalaysia, red blood cell membrane, Southeast Asian ovalocytosis, β-thalassemia trait

© 2015 Yamunah Raman, Mohamed Saleem, Rahimah Ahmad, Narazah Mohd Yusoff

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Comparison of hematological features of patients with both Southeast Asian ovalocytosis (SAO) and the β-thalassemia trait, pure SAO, the pure β-thalassemia trait, and controls. Values are presented as mean± SD.

Schlüsselwörter
Malaysia, red blood cell membrane, Southeast Asian ovalocytosis, β-thalassemia trait